case control studies

Summary

Summary: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.

Top Publications

  1. pmc A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    Timothy M Frayling
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter, UK
    Science 316:889-94. 2007
  2. ncbi Principal components analysis corrects for stratification in genome-wide association studies
    Alkes L Price
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 38:904-9. 2006
  3. ncbi A new multipoint method for genome-wide association studies by imputation of genotypes
    Jonathan Marchini
    Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK
    Nat Genet 39:906-13. 2007
  4. pmc Complement factor H polymorphism in age-related macular degeneration
    Robert J Klein
    Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Science 308:385-9. 2005
  5. ncbi Complement factor H variant increases the risk of age-related macular degeneration
    Jonathan L Haines
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Science 308:419-21. 2005
  6. ncbi Epidemiologic classification of human papillomavirus types associated with cervical cancer
    Nubia Munoz
    International Agency for Research on Cancer, Lyons, France
    N Engl J Med 348:518-27. 2003
  7. ncbi Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): case-control study
    Salim Yusuf
    Population Health Research Institute, Hamilton General Hospital, 237 Barton Street East, Hamilton, Ontario, Canada L8L 2X2
    Lancet 364:937-52. 2004
  8. ncbi Genomic control for association studies
    B Devlin
    Department of Psychiatry, University of Pittsburgh, Pennsylvania 15213, USA
    Biometrics 55:997-1004. 1999
  9. ncbi Antibodies against cyclic citrullinated peptide and IgA rheumatoid factor predict the development of rheumatoid arthritis
    Solbritt Rantapaa-Dahlqvist
    Umea Universitet, Umea, Sweden
    Arthritis Rheum 48:2741-9. 2003
  10. ncbi Interleukin-1 polymorphisms associated with increased risk of gastric cancer
    E M El-Omar
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
    Nature 404:398-402. 2000

Detail Information

Publications293 found, 100 shown here

  1. pmc A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    Timothy M Frayling
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter, UK
    Science 316:889-94. 2007
    ..67-fold increased odds of obesity when compared with those not inheriting a risk allele. This association was observed from age 7 years upward and reflects a specific increase in fat mass...
  2. ncbi Principal components analysis corrects for stratification in genome-wide association studies
    Alkes L Price
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 38:904-9. 2006
    ..Our simple, efficient approach can easily be applied to disease studies with hundreds of thousands of markers...
  3. ncbi A new multipoint method for genome-wide association studies by imputation of genotypes
    Jonathan Marchini
    Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK
    Nat Genet 39:906-13. 2007
    ..A notable future use of our method will be to boost power by combining data from genome-wide scans that use different SNP sets...
  4. pmc Complement factor H polymorphism in age-related macular degeneration
    Robert J Klein
    Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Science 308:385-9. 2005
    ..This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies...
  5. ncbi Complement factor H variant increases the risk of age-related macular degeneration
    Jonathan L Haines
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Science 308:419-21. 2005
    ..45 and 5.57. This common variant likely explains approximately 43% of AMD in older adults...
  6. ncbi Epidemiologic classification of human papillomavirus types associated with cervical cancer
    Nubia Munoz
    International Agency for Research on Cancer, Lyons, France
    N Engl J Med 348:518-27. 2003
    ..Infection with human papilloma virus (HPV) is the main cause of cervical cancer, but the risk associated with the various HPV types has not been adequately assessed...
  7. ncbi Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): case-control study
    Salim Yusuf
    Population Health Research Institute, Hamilton General Hospital, 237 Barton Street East, Hamilton, Ontario, Canada L8L 2X2
    Lancet 364:937-52. 2004
    ..Therefore, the effect of such factors on risk of coronary heart disease in most regions of the world is unknown...
  8. ncbi Genomic control for association studies
    B Devlin
    Department of Psychiatry, University of Pittsburgh, Pennsylvania 15213, USA
    Biometrics 55:997-1004. 1999
    ..The performance of our genomic control method is quite good for plausible effects of liability genes, which bodes well for future genetic analyses of complex disorders...
  9. ncbi Antibodies against cyclic citrullinated peptide and IgA rheumatoid factor predict the development of rheumatoid arthritis
    Solbritt Rantapaa-Dahlqvist
    Umea Universitet, Umea, Sweden
    Arthritis Rheum 48:2741-9. 2003
    ....
  10. ncbi Interleukin-1 polymorphisms associated with increased risk of gastric cancer
    E M El-Omar
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
    Nature 404:398-402. 2000
    ..Host genetic factors that affect interleukin-1-beta may determine why some individuals infected with H. pylori develop gastric cancer while others do not...
  11. ncbi Efficiency and power in genetic association studies
    Paul I W de Bakker
    Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, CPZN 6818, Boston, Massachusetts 02114 2790, USA
    Nat Genet 37:1217-23. 2005
    ..Power is robust to the completeness of the reference panel from which tags are selected. These findings have implications for prioritizing tag SNPs and interpreting association studies...
  12. pmc Genome-wide association study identifies novel breast cancer susceptibility loci
    Douglas F Easton
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK
    Nature 447:1087-93. 2007
    ..05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach...
  13. ncbi Complement factor H polymorphism and age-related macular degeneration
    Albert O Edwards
    Department of Ophthalmology and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center UTSWMC, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Science 308:421-4. 2005
    ..Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD...
  14. ncbi A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis
    Yoshinari Miyamoto
    Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1, Shirokanedai, Minato ku, Tokyo 108 8639, Japan
    Nat Genet 39:529-33. 2007
    ..Our findings implicate GDF5 as a susceptibility gene for osteoarthritis and suggest that decreased GDF5 expression is involved in the pathogenesis of osteoarthritis...
  15. ncbi Role of the insulin-like growth factor family in cancer development and progression
    H Yu
    Feist Weiller Cancer Center, Louisiana State University Health Sciences Center, Shreveport 71130 3932, USA
    J Natl Cancer Inst 92:1472-89. 2000
    ....
  16. ncbi A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
    Y Ogura
    Department of Pathology and Comprehensive Cancer Center, The University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
    Nature 411:603-6. 2001
    ..These results implicate NOD2 in susceptibility to Crohn's disease, and suggest a link between an innate immune response to bacterial components and development of disease...
  17. ncbi Body mass index, serum sex hormones, and breast cancer risk in postmenopausal women
    T J Key
    Cancer Research U K Epidemiology Unit, University of Oxford, Gibson Bldg, Radcliffe Infirmary, Oxford OX2 6HE, UK
    J Natl Cancer Inst 95:1218-26. 2003
    ..Obesity is associated with increased breast cancer risk among postmenopausal women. We examined whether this association could be explained by the relationship of body mass index (BMI) with serum sex hormone concentrations...
  18. ncbi Sample size requirements for association studies of gene-gene interaction
    W James Gauderman
    Department of Preventive Medicine, School of Medicine, University of Southern California, 1540 Alcazar Street, Suite 220, Los Angeles, CA 90089, USA
    Am J Epidemiol 155:478-84. 2002
    ..A software program that computes sample size for studies of G x G interaction and for studies of gene-environment (G x E) interaction is freely available (http://hydra.usc.edu/gxe)...
  19. pmc Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer
    M D Ritchie
    Program in Human Genetics, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical School, Nashville, TN 37232, USA
    Am J Hum Genet 69:138-47. 2001
    ..To our knowledge, this is the first report of a four-locus interaction associated with a common complex multifactorial disease...
  20. ncbi Effect of aspirin on long-term risk of colorectal cancer: consistent evidence from randomised and observational studies
    Enrico Flossmann
    Stroke Prevention Research Unit, University Department of Clinical Neurology, Radcliffe Infirmary, Oxford OX2 6HE, UK
    Lancet 369:1603-13. 2007
    ..However, the delay from the early development of adenoma to presentation with cancer is at least 10 years. We aimed to assess the longer-term effect of aspirin on the incidence of cancers...
  21. ncbi C-reactive protein and other markers of inflammation in the prediction of cardiovascular disease in women
    P M Ridker
    Center for Cardiovascular Disease Prevention, and Division of Cardiology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    N Engl J Med 342:836-43. 2000
    ..Since inflammation is believed to have a role in the pathogenesis of cardiovascular events, measurement of markers of inflammation has been proposed as a method to improve the prediction of the risk of these events...
  22. pmc Strong association of de novo copy number mutations with autism
    Jonathan Sebat
    Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA
    Science 316:445-9. 2007
    ..Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized...
  23. ncbi Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma
    Miriam F Moffatt
    National Heart and Lung Institute, Imperial College, London SW3 6LY, UK
    Nature 448:470-3. 2007
    ..The results indicate that genetic variants regulating ORMDL3 expression are determinants of susceptibility to childhood asthma...
  24. pmc Common variants near MC4R are associated with fat mass, weight and risk of obesity
    Ruth J F Loos
    MRC Epidemiology Unit, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
    Nat Genet 40:768-75. 2008
    ....
  25. pmc Upregulated miR-146a expression in peripheral blood mononuclear cells from rheumatoid arthritis patients
    Kaleb M Pauley
    Department of Oral Biology, University of Florida, Gainesville, Florida 32610, USA
    Arthritis Res Ther 10:R101. 2008
    ..In this study, the expression of selected microRNAs is examined in rheumatoid arthritis...
  26. pmc Type-II diabetes and pancreatic cancer: a meta-analysis of 36 studies
    R Huxley
    The George Institute for International Health, The University of Sydney, PO Box M201, Missenden Road, Sydney NSW 2050, Australia
    Br J Cancer 92:2076-83. 2005
    ..1 vs 1.5; P=0.005). These results support a modest causal association between type-II diabetes and pancreatic cancer...
  27. ncbi Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Science 320:539-43. 2008
    ..These results suggest that multiple, individually rare mutations altering genes in neurodevelopmental pathways contribute to schizophrenia...
  28. pmc A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
    Laura J Scott
    Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Science 316:1341-5. 2007
    ..This brings the number of T2D loci now confidently identified to at least 10...
  29. ncbi A genome-wide association study identifies novel risk loci for type 2 diabetes
    Robert Sladek
    Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Montreal H3A 1A4, Canada
    Nature 445:881-5. 2007
    ..These associations explain a substantial portion of disease risk and constitute proof of principle for the genome-wide approach to the elucidation of complex genetic traits...
  30. ncbi SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations
    Hiroyuki Unoki
    Laboratory for Endocrinology and Metabolism, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa 230 0045, Japan
    Nat Genet 40:1098-102. 2008
    ..5 x 10(-3); OR = 1.14, rs2237897, P = 2.4 x 10(-4); OR = 1.22) and Danish populations (additive model: rs2237895, P = 3.7 x 10(-11); OR = 1.24, rs2237897, P = 1.2 x 10(-4); OR = 1.36)...
  31. ncbi Cumulative association of five genetic variants with prostate cancer
    S Lilly Zheng
    Center for Human Genomics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    N Engl J Med 358:910-9. 2008
    ..3--have been associated with prostate cancer. Each SNP has only a moderate association, but when SNPs are combined, the association may be stronger...
  32. ncbi A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
    Anne E Hughes
    Department of Medical Genetics, Queen s University, Belfast, Belfast BT12 6BL, UK
    Nat Genet 38:1173-7. 2006
    ..The protective effect of the deletion haplotype cannot be attributed to linkage disequilibrium with Y402H and was replicated in an independent sample...
  33. pmc Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs
    Scott F Saccone
    Department of Psychiatry, Box 8134, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Hum Mol Genet 16:36-49. 2007
    ..Other genes among the top signals were KCNJ6 and GABRA4. This study represents one of the most powerful and extensive studies of nicotine dependence to date and has found novel risk loci that require confirmation by replication studies...
  34. ncbi ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
    Anthony Renwick
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
    Nat Genet 38:873-5. 2006
    ..37 (95% confidence interval (c.i.) = 1.51-3.78, P = 0.0003). There was no evidence that other classes of ATM variant confer a risk of breast cancer...
  35. ncbi Variation in FTO contributes to childhood obesity and severe adult obesity
    Christian Dina
    CNRS 8090 Institute of Biology, Pasteur Institute, Lille, France
    Nat Genet 39:724-6. 2007
    ..The at-risk haplotype yields a proportion of attributable risk of 22% for common obesity. We conclude that FTO contributes to human obesity and hence may be a target for subsequent functional analyses...
  36. ncbi Increased risk of noncardia gastric cancer associated with proinflammatory cytokine gene polymorphisms
    Emad M El-Omar
    Department of Medicine and Therapeutics, Aberdeen University, Foresterhill, Scotland
    Gastroenterology 124:1193-201. 2003
    ..The aim of this study was to evaluate the role of proinflammatory cytokine gene polymorphisms in gastric and esophageal cancers defined by anatomic subsite...
  37. ncbi Polymorphisms of DNA repair genes and risk of non-small cell lung cancer
    Shanbeh Zienolddiny
    Department of Toxicology, National Institute of Occupational Health, Oslo, Norway
    Carcinogenesis 27:560-7. 2006
    ....
  38. ncbi Complement C3 variant and the risk of age-related macular degeneration
    John R W Yates
    Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke s Hospital, Cambridge, United Kingdom
    N Engl J Med 357:553-61. 2007
    ..Age-related macular degeneration is the most common cause of blindness in Western populations. Susceptibility is influenced by age and by genetic and environmental factors. Complement activation is implicated in the pathogenesis...
  39. pmc A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci
    Ying Liu
    Division of Human Genetics, Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America
    PLoS Genet 4:e1000041. 2008
    ..This region harbors the interleukin 2 (IL2) and interleukin 21 (IL21) genes and was recently shown to be associated with four autoimmune diseases (Celiac disease, Type 1 diabetes, Grave's disease and Rheumatoid Arthritis)...
  40. pmc A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2
    Honglin Song
    Cancer Research UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK
    Nat Genet 41:996-1000. 2009
    ..82, 95% confidence interval (CI) 0.79-0.86, P(trend) = 5.1 x 10(-19)). The association differs by histological subtype, being strongest for serous ovarian cancers (OR 0.77, 95% CI 0.73-0.81, P(trend) = 4.1 x 10(-21))...
  41. ncbi Symptomatic gastroesophageal reflux as a risk factor for esophageal adenocarcinoma
    J Lagergren
    Department of Medical Epidemiology, Karolinska Institute, Stockholm, Sweden
    N Engl J Med 340:825-31. 1999
    ..The causes of adenocarcinomas of the esophagus and gastric cardia are poorly understood. We conducted an epidemiologic investigation of the possible association between gastroesophageal reflux and these tumors...
  42. ncbi Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer
    Simon N Stacey
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:865-9. 2007
    ..rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone...
  43. pmc Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility
    Miles Parkes
    Inflammatory Bowel Disease Research Group, Addenbrooke s Hospital, University of Cambridge, Cambridge CB2 2QQ, UK
    Nat Genet 39:830-2. 2007
    ..We obtained replication for the autophagy-inducing IRGM gene on chromosome 5q33.1 (replication P = 6.6 x 10(-4), combined P = 2.1 x 10(-10)) and for nine other loci, including NKX2-3, PTPN2 and gene deserts on chromosomes 1q and 5p13...
  44. ncbi A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer
    Stefano Landi
    Genetica, Dip Scienze Uomo e Ambiente, University of Pisa, Italy
    Pharmacogenet Genomics 15:535-46. 2005
    ....
  45. pmc Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European America
    Yan Yang
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, Columbus, OH 43205, USA
    Am J Hum Genet 80:1037-54. 2007
    ..This work demonstrates how gene CNV and its related polymorphisms are associated with the susceptibility to a human complex disease...
  46. ncbi C-reactive protein and other circulating markers of inflammation in the prediction of coronary heart disease
    John Danesh
    Department of Public Health and Primary Care, Institute of Public Health, University of Cambridge, Cambridge, United Kingdom
    N Engl J Med 350:1387-97. 2004
    ..We report data from a large study of C-reactive protein and other circulating inflammatory markers, as well as updated meta-analyses, to evaluate their relevance to the prediction of coronary heart disease...
  47. ncbi Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals
    Daniel O Stram
    Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA
    Hum Hered 55:179-90. 2003
    ..1]) the differences between the three methods are very small and in particular that the single imputation method may be expected to work extremely well...
  48. ncbi Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database
    Nicole C Allen
    Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
    Nat Genet 40:827-34. 2008
    ..As such, it could serve as a model for field synopses of genetic associations in other common and genetically complex disorders...
  49. pmc Genomic convergence analysis of schizophrenia: mRNA sequencing reveals altered synaptic vesicular transport in post-mortem cerebellum
    Joann Mudge
    National Center for Genome Resources, Santa Fe, NM, USA
    PLoS ONE 3:e3625. 2008
    ..Twenty three genes with altered expression and involvement in presynaptic vesicular transport, Golgi function and GABAergic neurotransmission define a unifying molecular hypothesis for dysfunction in cerebellar cortex in SCZ...
  50. pmc Calcium plus vitamin D supplementation and the risk of breast cancer
    Rowan T Chlebowski
    Los Angeles Biomedical Research Institute at Harbor UCLA Medical Center, Torrance, CA 90502, USA
    J Natl Cancer Inst 100:1581-91. 2008
    ..Although some observational studies have associated higher calcium intake and especially higher vitamin D intake and 25-hydroxyvitamin D levels with lower breast cancer risk, no randomized trial has evaluated these relationships...
  51. ncbi Bayesian inference of epistatic interactions in case-control studies
    Yu Zhang
    Department of Statistics, The Pennsylvania State University, Thomas Building 422A, University Park, Pennsylvania 16802, USA
    Nat Genet 39:1167-73. 2007
    ....
  52. pmc Variants in MTNR1B influence fasting glucose levels
    Inga Prokopenko
    1 Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK 2 Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK 3 These authors contributed equally to this work
    Nat Genet 41:77-81. 2009
    ..Our analyses also confirm previous associations of fasting glucose with variants at the G6PC2 (rs560887, P = 1.1 x 10(-57)) and GCK (rs4607517, P = 1.0 x 10(-25)) loci...
  53. ncbi Use of gastric acid-suppressive agents and the risk of community-acquired Clostridium difficile-associated disease
    Sandra Dial
    Division of Critical Care and Respiratory and Clinical Research, Department of Epidemiology and Biostatistics, McGill University, Montreal, Quebec
    JAMA 294:2989-95. 2005
    ..Recent reports suggest an increasing occurrence and severity of Clostridium difficile-associated disease. We assessed whether the use of gastric acid-suppressive agents is associated with an increased risk in the community...
  54. pmc PGA: power calculator for case-control genetic association analyses
    Idan Menashe
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institute of Health, Department of Health and Human Services, Rockville, MD, USA
    BMC Genet 9:36. 2008
    ..Statistical power calculations inform the design and interpretation of genetic association studies, but few programs are tailored to case-control studies of single nucleotide polymorphisms (SNPs) in unrelated subjects...
  55. ncbi Association of psychosocial risk factors with risk of acute myocardial infarction in 11119 cases and 13648 controls from 52 countries (the INTERHEART study): case-control study
    Annika Rosengren
    Sahlgrenska University Hospital Ostra, Goteborg, Sweden
    Lancet 364:953-62. 2004
    ..The aim of the present analysis was to investigate the relation of psychosocial factors to risk of myocardial infarction in 24767 people from 52 countries...
  56. ncbi Investigation of the risk factors for tuberculosis: a case-control study in three countries in West Africa
    C Lienhardt
    MRC Laboratories, Fajara, The Gambia
    Int J Epidemiol 34:914-23. 2005
    ..Host-related and environment-related factors have been shown to play a role in the development of tuberculosis (TB), but few studies were carried out to identify their respective roles in resource-poor countries...
  57. ncbi Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis
    Amir S Karban
    Johns Hopkins University School of Medicine, 1503 E Jefferson Street, Room B136, Baltimore, MD 21231, USA
    Hum Mol Genet 13:35-45. 2004
    ..Therefore, we have identified the first potentially functional polymorphism of NFKB1 and demonstrated its genetic association with a common human disease, ulcerative colitis...
  58. ncbi Central obesity and breast cancer risk: a systematic review
    M Harvie
    University Departments of Medical Oncology, South Manchester University Hospitals, Manchester, UK
    Obes Rev 4:157-73. 2003
    ..Amongst pre-menopausal women, central (not general) obesity may be specifically associated with an increased risk of breast cancer...
  59. ncbi Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility
    Andre Franke
    Institute for Clinical Molecular Biology, Christian Albrechts University, Kiel 24105, Germany
    Nat Genet 40:1319-23. 2008
    ..17 (1.01-1.34)). IL10 is an immunosuppressive cytokine that has long been proposed to influence IBD pathophysiology. Our findings strongly suggest that defective IL10 function is central to the pathogenesis of the UC subtype of IBD...
  60. ncbi Adiponectin and breast cancer risk
    Christos Mantzoros
    Division of Endocrinology and Metabolism, Department of Internal Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02215, USA
    J Clin Endocrinol Metab 89:1102-7. 2004
    ..Future studies are needed to prove causality and provide further insights into both the mechanisms underlying the actions of this hormone and its potential role in breast cancer...
  61. ncbi Meta-analysis of risk factors for cutaneous melanoma: II. Sun exposure
    Sara Gandini
    Department of Epidemiology and Biostatistics, European Institute of Oncology, IRCCS Via Ripamonti 435, 20141 Milan, Italy
    Eur J Cancer 41:45-60. 2005
    ....
  62. ncbi Polymorphisms of death pathway genes FAS and FASL in esophageal squamous-cell carcinoma
    Tong Sun
    Department of Etiology and Carcinogenesis, Cancer Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    J Natl Cancer Inst 96:1030-6. 2004
    ..We examined the association between these polymorphisms and risk of the development and metastasis of esophageal squamous-cell carcinoma...
  63. pmc Case-control association testing with related individuals: a more powerful quasi-likelihood score test
    Timothy Thornton
    Department of Statistics, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 81:321-37. 2007
    ..0x10(-7)), tsc0046696 (P=4.7x10(-7)), and tsc0057290 (P=5.2x10(-7)) on chromosomes 1, 16, 18, and 18, respectively. Three of these four significant associations were not detected in previous studies analyzing these data...
  64. ncbi Double-masked, placebo-controlled, randomized trial of lutein and antioxidant supplementation in the intervention of atrophic age-related macular degeneration: the Veterans LAST study (Lutein Antioxidant Supplementation Trial)
    Stuart Richer
    Department of Veterans Affairs, Medical Center Eye Clinic, North Chicago, Illinois 60064 3095, USA
    Optometry 75:216-30. 2004
    ....
  65. ncbi Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX
    Geoffrey Hom
    Genentech, South San Francisco, CA 94080, USA
    N Engl J Med 358:900-9. 2008
    ..Alleles of HLA-DRB1, IRF5, and STAT4 are established susceptibility genes; there is strong evidence for the existence of additional risk loci...
  66. ncbi Constitutional short telomeres are strong genetic susceptibility markers for bladder cancer
    Karin Broberg
    Department of Occupational and Environmental Medicine, Lund University, Sweden
    Carcinogenesis 26:1263-71. 2005
    ..9-150). However, no significant interaction for cancer risk could be proven for telomere length, smoking and susceptibility genotypes of metabolizing and DNA-repairing genes...
  67. pmc Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration
    Bert Gold
    Laboratory of Genomic Diversity, National Cancer Institute, Frederick, Maryland 21702, USA
    Nat Genet 38:458-62. 2006
    ..These data expand and refine our understanding of the genetic risk for AMD...
  68. pmc Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    Sergey Nejentsev
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK
    Science 324:387-9. 2009
    ..This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs...
  69. ncbi Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymph Consortium
    Nathaniel Rothman
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    Lancet Oncol 7:27-38. 2006
    ..We aimed to test this hypothesis using previously unpublished data from eight European, Canadian, and US case-control studies of the International Lymphoma Epidemiology Consortium (InterLymph)...
  70. ncbi Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus
    Snaevar Sigurdsson
    Molecular Medicine, Department of Medical Sciences, Uppsala University, Uppsala, Sweden
    Hum Mol Genet 17:872-81. 2008
    ..We have found that the same IRF5 allele also confers risk for inflammatory bowel diseases and multiple sclerosis, suggesting a general role for IRF5 in autoimmune diseases...
  71. ncbi 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review
    L D Botto
    Birth Defects and Pediatric Genetics Branch, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
    Am J Epidemiol 151:862-77. 2000
    ..Studies of the C677T allele in relation to oral clefts, Down syndrome, and fetal anticonvulsant syndrome either have yielded conflicting results or have not been yet replicated...
  72. ncbi Unique lipoprotein phenotype and genotype associated with exceptional longevity
    Nir Barzilai
    Institute for Aging Research, Diabetes Research and Training Center, Albert Einstein College of Medicine, New York, NY 10461, USA
    JAMA 290:2030-40. 2003
    ..Individuals with exceptional longevity have a lower incidence and/or significant delay in the onset of age-related disease, and their family members may inherit biological factors that modulate aging processes and disease susceptibility...
  73. ncbi Association of serum adiponectin levels with breast cancer risk
    Yasuo Miyoshi
    Department of Surgical Oncology, Osaka University Graduate School of Medicine, Osaka, Japan
    Clin Cancer Res 9:5699-704. 2003
    ..Thus, in the present study, the association of the serum adiponectin levels with breast cancer risk was investigated...
  74. ncbi Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration
    Kylee L Spencer
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA
    Hum Mol Genet 16:1986-92. 2007
    ..21, 95% confidence interval 0.11-0.39; P < 10(-4)). Likelihood ratio testing and conditional analyses in the case-control data set suggest that a weaker, independent protective effect exists for CC2 E318D...
  75. ncbi Trend tests for case-control studies of genetic markers: power, sample size and robustness
    B Freidlin
    Biometric Research Branch, National Cancer Institute, Rockville, MD 20892, USA
    Hum Hered 53:146-52. 2002
    ..Simulation results of the robustness of these two tests indicate that the more computationally involved MAX test is preferable...
  76. ncbi Dendritic cells are functionally defective in multiple myeloma: the role of interleukin-6
    Marina Ratta
    Institute of Hematology and Medical Oncology, Lorenzo e Ariosto Seràgnoli, University of Bologna, Italy
    Blood 100:230-7. 2002
    ..This brings into question the advisability of using PBDCs as antigen carriers for immunotherapy trials in MM. The results also suggest a novel mechanism whereby myeloma cells escape immune recognition...
  77. ncbi Ambient air pollution and preterm birth in the environment and pregnancy outcomes study at the University of California, Los Angeles
    Beate Ritz
    Department of Epidemiology, School of Public Health, University of California, Los Angeles, CA 90095, USA
    Am J Epidemiol 166:1045-52. 2007
    ..These results confirm the importance of reducing exposure misclassification when evaluating the effect of traffic-related pollutants that vary spatially...
  78. ncbi Genetic association studies: design, analysis and interpretation
    Cathryn M Lewis
    Division of Medical and Molecular Genetics, Guy s Hospital, London, UK
    Brief Bioinform 3:146-53. 2002
    This paper provides a review of the design and analysis of genetic association studies. In case control studies, the different contingency tables and their relationships to the underlying genetic model are defined...
  79. ncbi Investigation of the single case in neuropsychology: confidence limits on the abnormality of test scores and test score differences
    J R Crawford
    Department of Psychology, King s College, University of Aberdeen, UK
    Neuropsychologia 40:1196-208. 2002
    ..Computer programs that implement the formulae for the confidence limits (and point estimates) are described and made available...
  80. ncbi Intron 3 16 bp duplication polymorphism of p53 is associated with an increased risk for breast cancer by the age of 50 years
    Shan Wang-Gohrke
    Department of Obstetrics and Gynaecology, Molecular Biology Laboratory, University of Ulm, Germany
    Pharmacogenetics 12:269-72. 2002
    ..Our data suggest that inheritance of an intronic polymorphism in the p53 gene increases breast cancer risk appreciably in women by the age of 50 years with a family history of breast cancer in the German population...
  81. ncbi Polymorphisms in DNA base excision repair genes ADPRT and XRCC1 and risk of lung cancer
    Xuemei Zhang
    Department of Etiology and Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences, Beijing 100 021, China
    Cancer Res 65:722-6. 2005
    ..In conclusion, the ADPRT Val762Ala polymorphism plays an important role in smoking-related lung cancer and the XRCC1 Arg399Gln polymorphism may serve as a risk modifier...
  82. ncbi Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease
    Keiko Yamazaki
    Laboratory of Molecular Medicine, Institute of Medical Science, The University of Tokyo, Japan
    Hum Mol Genet 14:3499-506. 2005
    ..Our results suggest that the genetic variations in the TNFSF15 gene contribute to the susceptibility to IBD in the Japanese and European populations...
  83. pmc Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk
    Tasha R Smith
    Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, 1120 NW 14th Street, CRB Building 1511, Miami, FL, USA
    Carcinogenesis 29:2132-8. 2008
    ..006), respectively. Our results suggest that combined nsSNPs in multiple DNA repair pathways may contribute to breast cancer risk and larger studies are warranted to further evaluate polygenic models of DNA repair in breast cancer risk...
  84. ncbi Carboxyethylpyrrole protein adducts and autoantibodies, biomarkers for age-related macular degeneration
    Xiaorong Gu
    Department of Chemistry, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, Ohio 44106, USA
    J Biol Chem 278:42027-35. 2003
    ..These results suggest that together CEP immunoreactivity and autoantibody titer may have diagnostic utility in predicting AMD susceptibility...
  85. ncbi Risk factors for sporadic Campylobacter infection in the United States: A case-control study in FoodNet sites
    Cindy R Friedman
    Foodborne and Diarrheal Diseases Branch, Division of Bacterial and Mycotic Diseases, National Center for Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
    Clin Infect Dis 38:S285-96. 2004
    ..Restaurants should improve food-handling practices, ensure adequate cooking of meat and poultry, and consider purchasing poultry that has been treated to reduce Campylobacter contamination...
  86. pmc Score tests for association between traits and haplotypes when linkage phase is ambiguous
    Daniel J Schaid
    Department of Health Sciences Research, Mayo Clinic Foundation, Rochester, MN 55905, USA
    Am J Hum Genet 70:425-34. 2002
    ..Limited simulations are also presented to demonstrate the validity of our methods, as well as to provide guidelines on how our methods could be used...
  87. pmc Association mapping in structured populations
    J K Pritchard
    Department of Statistics, University of Oxford, United Kingdom
    Am J Hum Genet 67:170-81. 2000
    ..It provides power comparable with the TDT in many settings and may substantially outperform it if there are conflicting associations in different subpopulations...
  88. ncbi Extended-spectrum beta-lactamase-producing Escherichia coli and Klebsiella pneumoniae: risk factors for infection and impact of resistance on outcomes
    E Lautenbach
    Division of Infectious Diseases, Department of Medicine, University of Pennsylvania Medical Center, Philadelphia, PA, USA
    Clin Infect Dis 32:1162-71. 2001
    ..coli and K. pneumoniae should emphasize judicious use of all antibiotics as well as barrier precautions to reduce spread...
  89. ncbi Case-control studies of association in structured or admixed populations
    J K Pritchard
    Department of Statistics, University of Oxford, Oxford, OX1 3TG, United Kingdom
    Theor Popul Biol 60:227-37. 2001
    ..We discuss the statistical issues involved in the different approaches and present results from simulations comparing the relative performance of the methods under a range of models...
  90. ncbi Increased expression of transforming growth factor-beta1 in small airway epithelium from tobacco smokers and patients with chronic obstructive pulmonary disease (COPD)
    H Takizawa
    Department of Laboratory Medicine and Respiratory Medicine, Tokyo University, School of Medicine, 7 3 1Hongo, Bunkyo ku, Tokyo 113, Japan
    Am J Respir Crit Care Med 163:1476-83. 2001
    ..Our study showed a close link between smoking and expression of TGF-beta1 in small airways. Our results also suggested that small airway epithelial cells might be involved in obstructive changes found in smokers and patients with COPD...
  91. ncbi Oxidative stress markers in aqueous humor of glaucoma patients
    Sandra M Ferreira
    Departamento de Química Analítica y Fisicoquímica, Facultad de Farmacia y Bioquimica, Universidad de Buenos Aires, Instituto de Quimica y Fisicoquimica Biologica, CONICET, Buenos Aires, Argentina
    Am J Ophthalmol 137:62-9. 2004
    ..For this purpose the authors measured the total reactive antioxidant potential (TRAP) and the activities of the antioxidant enzymes superoxide dismutase (SOD), catalase, and glutathione peroxidase...
  92. pmc Radon in homes and risk of lung cancer: collaborative analysis of individual data from 13 European case-control studies
    S Darby
    Clinical Trials Service Unit and Epidemiological Studies Unit, Radcliffe Infirmary, Oxford OX2 6HE
    BMJ 330:223. 2005
    ..To determine the risk of lung cancer associated with exposure at home to the radioactive disintegration products of naturally occurring radon gas...
  93. ncbi Malignancies, prothrombotic mutations, and the risk of venous thrombosis
    Jeanet W Blom
    Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
    JAMA 293:715-22. 2005
    ..Venous thrombosis is a common complication in patients with cancer, leading to additional morbidity and compromising quality of life...
  94. pmc Epidemiologic evaluation of measurement data in the presence of detection limits
    Jay H Lubin
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
    Environ Health Perspect 112:1691-6. 2004
    ..We illustrate various approaches using measurements of pesticide residues in carpet dust in control subjects from a case-control study of non-Hodgkin lymphoma...
  95. pmc A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities
    Yuta Kochi
    Laboratory for Rheumatic Diseases, SNP Research Center, RIKEN, Yokohama 230 0045, Japan
    Nat Genet 37:478-85. 2005
    ..We also found associations between the SNP and susceptibility to autoimmune thyroid disease and systemic lupus erythematosus. FCRL3 may therefore have a pivotal role in autoimmunity...
  96. ncbi Circulating angiogenic factors and the risk of preeclampsia
    Richard J Levine
    Division of Epidemiology, Statistics, and Prevention Research, National Institute of Child Health and Human Development, Department of Health and Human Services, Bethesda, MD 20892, USA
    N Engl J Med 350:672-83. 2004
    ..Limited data suggest that excess circulating soluble fms-like tyrosine kinase 1 (sFlt-1), which binds placental growth factor (PlGF) and vascular endothelial growth factor (VEGF), may have a pathogenic role...
  97. pmc New susceptibility locus for coronary artery disease on chromosome 3q22.3
    Jeanette Erdmann
    Medizinische Klinik II, Universitat zu Lubeck, 23538 Lubeck, Germany
    Nat Genet 41:280-2. 2009
    ..We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11)...
  98. pmc Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility
    Margaret Wrensch
    Department of Neurological Surgery, University of California, San Francisco, San Francisco, California, USA
    Nat Genet 41:905-8. 2009
    ..85 x 10(-10). On 20q13.3, rs6010620 intronic to RTEL1 had discovery P = 1.5 x 10(-7), replication P = 0.00035 and combined P = 3.40 x 10(-9). For both SNPs, the direction of association was the same in discovery and replication phases...
  99. ncbi The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
    P J Bosma
    Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands
    N Engl J Med 333:1171-5. 1995
    ..Hepatic glucuronidating activity, essential for efficient biliary excretion of bilirubin, is reduced to about 30 percent of normal...
  100. ncbi The human amygdala in social judgment
    R Adolphs
    Department of Neurology, University of Iowa College of Medicine, Iowa City 52242, USA
    Nature 393:470-4. 1998
    ..The amygdala appears to be an important component of the neural systems that help retrieve socially relevant knowledge on the basis of facial appearance...

Research Grants75

  1. THE AGRICULTURAL HEALTH STUDY - FIELD STATIONS
    Charles Lynch; Fiscal Year: 2010
    ..In yet another study, results suggest that maternal occupational exposure to agricultural chemicals may increase the risk of giving birth to a child with limb defects. ..
  2. NIEHS SUPPORT OF THE AHS COHORT STUDY AT NCI
    Charles Knott; Fiscal Year: 2010
    ..In yet another study, results suggest that maternal occupational exposure to agricultural chemicals may increase the risk of giving birth to a child with limb defects. ..
  3. Prospective studies of cancer etiology and prevention in Shanghai and Singapore
    Jian Min Yuan; Fiscal Year: 2013
    ..The findings of the proposed study will have great impact on reducing incidence and mortality of lung and liver cancers in humans. ..
  4. Community Participation Research of Breastfeeding Disparities in African American
    Tamar Ringel Kulka; Fiscal Year: 2009
    ..E.S.T (Breastfeeding, Education &Support Team) Alliance for Babies} and propose to conduct community participation research of breastfeeding disparities in African American women in Durham County, North Carolina. ..
  5. Durable Visible Light-activated Antivral Coatings for Fabrics Used for Personal P
    JOSEF STEPHAN SCHNEIDER; Fiscal Year: 2011
    ..The goal of the research is to transition the manufacture of antiviral fabric and respirator masks from the test lab to large-scale manufacturing. ..
  6. The Role of Circadian Periodicity in Human Cardiovascular Disease and Diabetes
    John P Forman; Fiscal Year: 2013
    ..Our project may help provide a framework for innovative approaches in cardiovascular disease and diabetes treatment and prevention. ..
  7. Exercise, Breast Cancer Prevention, and Mechanisms
    Henry J Thompson; Fiscal Year: 2013
    ..The data obtained has the potential to facilitate the translation of pre-clinical and clinical research to public health guidelines for PA directed to cancer prevention and control. ..
  8. Human Papillomavirus Association with Subsets of Colorectal Cancer
    Polly A Newcomb; Fiscal Year: 2010
    ..With the recent licensure of an effective vaccine against HPV, it is important to characterize the total burden of disease associated with this virus. ..
  9. Molecular Epidemiology of Chronic Liver Diseases
    Manal Hassan; Fiscal Year: 2009
    ..The long-term plan is to refine our risk assessment in patients with liver cirrhosis and HCC so that we can identify high-risk subgroups of candidates for primary and secondary prevention measures. ..
  10. Characterizing Mitochondrial DNA Susceptibility to Breast, Colorectal, and Prosta
    Iona Cheng; Fiscal Year: 2012
    ..In addition, we will evaluate heterogeneity of effects by disease sub-groups, environmental factors and known genetic risk factors. ..
  11. Immunology, Inflammation, and Endometriosis
    STACEY ANN MISSMER; Fiscal Year: 2012
    ..We believe that quantifying these factors may improve our understanding of the etiology and consequences of endometriosis. ..
  12. Breast Carcinoma in situ: Predicting Risk and Outcomes
    Amy Trentham-Dietz; Fiscal Year: 2013
    ..The long-term goal of this project is to reduce the public health impact of BCIS by quantifying both contextual and personal risk factors for the development of BCIS and the recurrence of breast cancer after a BCIS diagnosis. ..
  13. Transplant Associated Infection Surveillance Network Phase II
    PETER GEORGE PAPPAS; Fiscal Year: 2012
    ..This consortium is very well positioned to accomplish the goals set forth in this announcement. ..
  14. Flavonoids, esophageal/gastric cardia adenocarcinoma and Barretts Esophagus Risk
    Marilie D Gammon; Fiscal Year: 2013
    ..This would allow some EA and GCA to be prevented before individuals develop these lethal cancers. ..
  15. Factors for Epigenetic Silencing of Lung Cancer Genes
    Steven A Belinsky; Fiscal Year: 2013
    ..Therefore, these studies will identify biomarkers for risk assessment and early detection of lung cancer, the leading cause of cancer-related death in the U.S. ..
  16. Vitamin D, Epstein-Barr virus infection, and cigarette smoking and risk of multip
    Alberto Ascherio; Fiscal Year: 2013
    ..If successful, the project will be important in planning and implementing strategies for MS prevention. ..
  17. Melanoma Prevention: Using the Sun
    Marianne Berwick; Fiscal Year: 2013
    ..The NCI clearly states that prevention must be based on knowledge developed by integrative population science teams working in the population and in the laboratory. ..
  18. Telomeres and lung cancer incidence and survival
    Jennifer Anne Doherty; Fiscal Year: 2013
    ....
  19. African-Caribbean Cancer Consortium Scientific and Training Conference
    CAMILLE C RAGIN; Fiscal Year: 2012
    ....
  20. Molecular and Epigenetic Mitochondriomics of Air Particles, Lead and Cognition
    Andrea Baccarelli; Fiscal Year: 2013
    ..As we can leverage a wealth of extant resources and data from the NAS and MOBILIZE cohorts, we will be able to cost-effectively recapitulate data from up to two decades of aging over the cycle of a 4-year grant. ..
  21. NEXT GENERATION SEQUENCING ADD-ON-PHARMACOGENOMICS RESEARCH NETWROK (PGRN)
    Elaine R Mardis; Fiscal Year: 2013
    ..abstract_text> ..
  22. Multi-Disciplinary Evaluation of Chronic Pelvic Pain Syndrome
    GERALD LOUIS ANDRIOLE; Fiscal Year: 2012
    ..Collectively, we are confident that these 5 projects will address key questions in UCPPS research, and deepen our understanding of chronic pain syndromes. ..
  23. Immunological Factors and Risk of Vulvodynia
    Bernard L Harlow; Fiscal Year: 2013
    ..It will also help determine what factors contribute toward successful recruitment of subjects for important studies of stigmatizing conditions which can be extremely prevalent among women. ..
  24. Novel Biomarkers to Identify Vulnerable Patients with Coronary Artery Disease
    Marc S Sabatine; Fiscal Year: 2012
    ..Our goal is to evaluate potential new blood tests that may predict recurrent heart disease and determine which ones offer the greatest value. ..
  25. Mitochondrial Genetic Susceptibility to Breast and Prostate Cancers
    Iona Cheng; Fiscal Year: 2013
    ..The ultimate application of these findings may improve the prevention, diagnosis and treatment of cancers of the breast and prostate. ..
  26. Retrospective Assessment of Military Occupations &Neurodegenerative Diseases
    Lorene M Nelson; Fiscal Year: 2011
    ....
  27. Pooling of Prospective Studies of Diet, Lifestyle and ALS
    EILIS O'REILLY; Fiscal Year: 2013
    ..The independent population made from the collaborating cohorts will comprise 450,657 women and 195,097 men with over 652 ALS deaths from the outset of the project (ALS deaths will continue to be accrued throughout the project duration). ..
  28. Genetic Susceptibility to Non-Hodgkins Lymphoma
    Christine F Skibola; Fiscal Year: 2012
    ....
  29. Human Papillomavirus Infection in Perinatally HIV-infected Adolescents in Asia
    Annette H Sohn; Fiscal Year: 2013
    ..This study will produce the first regional-level evidence to guide HPV infection prevention and cervical intraepithelial neoplasia monitoring for perinatally HIV-infected adolescents in Asia. ..
  30. Genomics of Primary Biliary Cirrhosis
    Konstantinos N Lazaridis; Fiscal Year: 2013
    ..Overall, this study will further our understanding of genetic variants and disease mechanisms of PBC that have meaningful clinical impact on individualizing therapy and prognosis. ..
  31. Interferon Alpha as a Tool for Gene Discovery in Human Lupus
    Timothy B Niewold; Fiscal Year: 2013
    ..Detailed knowledge of the functional genetic factors present in a given patient could be of great utility in individualizing therapy, and may allow for the development of preventive strategies. ..
  32. Alcohol Consumption and Risk of Rheumatoid Arthritis in Women
    Bing Lu; Fiscal Year: 2011
    ..Findings from this large cohort study will clarify the possible protective effect of alcohol use on risk of RA in women and furnish additional information for RA prevention strategies. ..
  33. TGF-beta polymorphisms and breast cancer in families
    Boris Pasche; Fiscal Year: 2013
    ..This project will study 65 genes of the TGF-2 pathway in 5357 women with breast cancer and their unaffected sisters and determine which genes are associated with breast cancer risk. ..
  34. Environmental Health Specialist Network
    RICHARD NORMAN DANILA; Fiscal Year: 2013
    ..In addition, studies conducted by the Minnesota Department of Health (MDH) and FoodNet have implicated well water consumption as a risk factor for cryptosporidiosis and possibly other disease agents as well. ..
  35. Statins To Prevent Progression of Glaucoma: The STOP Glaucoma Trial
    Joshua D Stein; Fiscal Year: 2013
    ....
  36. Human neurobehavioral phenotypes associates with the extended PWS/AS domain
    Arthur L Beaudet; Fiscal Year: 2013
    ..Aim 1a is to determine if the 15q13.3 and CHRNA7 duplications are pathological or benign using case control studies. Aim 1b is to identify the basis for the phenotypic heterogeneity associated with the 15q13...
  37. Innate Immunogenetics &Human Infections
    Thomas R Hawn; Fiscal Year: 2013
    ..The mentoring goals are to provide a dynamic scientific environment with resources to foster the careers of clinician scientists in patient-oriented research related to genetics and innate immunity. ..
  38. EMERGING INFECTIONS PROGRAM
    Timothy F Jones; Fiscal Year: 2011
    ..abstract_text> ..
  39. Prospective Study of Breast Cancer Survivorship
    Lawrence H Kushi; Fiscal Year: 2013
    ....
  40. Cholesterol metabolism pathway: Cognitive change and Alzheimer's disease risk
    Chandra A Reynolds; Fiscal Year: 2010
    ....
  41. Identifying Risk Factors and Improving Risk Assessment for Nephrolithiasis
    Eric N Taylor; Fiscal Year: 2013
    ....
  42. Novel Risk Factors For Hypertension
    John P Forman; Fiscal Year: 2010
    ..Sc.D., a well-known epidemiologist with an interest in HTN. This project proposal will provide the foundation for the candidate's future career as an independent and successful clinical scientist in HTN research. (End of Abstract) ..
  43. Vitamin D Status, Vitamin D Receptor Gene Variants, and Hypertension Risk
    Lu Wang; Fiscal Year: 2011
    ....
  44. Epidemiology of Celiac Disease: A Population Based Study
    Joseph A Murray; Fiscal Year: 2010
    ..This will provide crucial data that will determine the need for early detection by screening and treatment of silent celiac disease, which may affect 1% of Americans. ..
  45. Role of Helicobacter Pylori in the Pathogenesis of Childhood Asthma
    Jay V Solnick; Fiscal Year: 2012
    ..Recent retrospective and case control studies suggest that infection with H...
  46. Resequencing and Functional Studies to Identify Causal Gene Variants of Lymphoma
    Christine F Skibola; Fiscal Year: 2013
    ..Thus, the identification of causal gene variants in this region for lymphoma may also prove helpful in understanding other diseases sharing common susceptibility loci. ..
  47. Genetic and Lifestyle Factors and Risk of Gastrointestinal Bleeding
    Andrew T Chan; Fiscal Year: 2013
    ..With the growing use of aspirin for an expanding number of indications, our results may fulfill a critical unmet need for public health recommendations, individual clinical encounters, and future clinical trials of aspirin. ..
  48. Metabolism of Carcinogenic Tobacco-Specific Nitrosamines
    Stephen S Hecht; Fiscal Year: 2013
    ..for measurement of the NNK metabolite NNAL in human blood and urine, and apply these methods in nested case control studies in which pre-diagnosis samples have been stored from smokers who developed lung cancer and from matched ..
  49. Epidemiology of Ovarian Cancer in African-American Women
    Joellen M Schildkraut; Fiscal Year: 2013
    ..This study will provide new insight into both the etiology and prognosis of ovarian cancer in African-American women. ..
  50. Natural History of Pre-diabetic Autoimmunity (DAISY)
    Marian J Rewers; Fiscal Year: 2010
    ..abstract_text> ..
  51. A MACHINE LEARNING APPROACH FOR FINE-SCALE GENOME WIDE DNA METHYLATION ANALYSIS
    John R Edwards; Fiscal Year: 2013
    ..The general framework developed here can be expanded in the future to examine methylation signatures at enhancers and gene bodies, as well as to histone marks or other genomic signals that carry detailed spatial information. ..
  52. Genetic Epidemiology of Breast Cancer: Risk, Instability, and Statistical Methods
    Li Hsu; Fiscal Year: 2013
    ..There is a great need to characterize these novel genes and provide inference for these networks. The methods proposed here are efforts towards this direction. ..
  53. Defining the genetic architecture of IBD in Ashkenazi Jewish populations
    Judy H Cho; Fiscal Year: 2013
    ..will be achieved through the interrogation of uncommon SNPs in the exome and throughout the genome through case control studies (Specific Aim 1)...
  54. Impact of Lifestyle with Tumor Pathways and Microenvironment on Lymphoma Survival
    ANDREW M contact EVENS; Fiscal Year: 2010
    ..The results will provide new insights into improved disease prognostication, and ultimately lead to better treatment selection. ..
  55. Integrating geographical and genetic mapping of salmonella disease in an endemic
    Samuel M Kariuki; Fiscal Year: 2013
    ....
  56. Vitamin D, Related Genes and Breast Cancer Risk
    Anne Zeleniuch-Jacquotte; Fiscal Year: 2013
    ..Circulating levels of estradiol will be measured in postmenopausal matched sets. ..
  57. Vitamin D Status, Vitamin D Receptor Gene Variants, and Hypertension Risk
    Lu Wang; Fiscal Year: 2013
    ..abstract_text> ..
  58. Macronutrients, Mitochondria and Blood Metabolome/Proteome Disease Risk Profiles
    Bruce S Kristal; Fiscal Year: 2010
    ..mitochondrial property predict type II diabetes (Aim 3) and breast cancer (Aim 4) in previously profiled case control studies nested within the Nurses'Health Study Aim 5: To provide an electronic archive of the metabolomic and ..
  59. Physical Activity and Pelvic Floor Disorders
    Ingrid E Nygaard; Fiscal Year: 2012
    ..Given the health benefits of activity, we believe that women should be encouraged to be active unless there is scientific evidence to the contrary. ..
  60. Genetic interactions in colorectal cancer susceptibility
    Amanda Ewart Toland; Fiscal Year: 2013
    ..Variants showing evidence of cancer risk will be the focus of future population-based case control studies and mechanistic studies...
  61. Mitochondria as a novel biomarker of colorectal adenoma
    Bharat Thyagarajan; Fiscal Year: 2013
    ....
  62. Accuracy of Self-Reported Prenatal Smoking in Child Cancer Epidemiology Studies
    Beth A Mueller; Fiscal Year: 2010
    ..This information may help improve studies of childhood cancer and other outcomes such as malformations and Sudden Infant Death Syndrome. ..
  63. HAIR DYE USE AND RISK OF NONHODGKINS LYMPHOMA
    Tongzhang Zheng; Fiscal Year: 2000
    ..Statistical analyses will be performed using standard techniques to address the questions raised by the specific aims. ..
  64. Pharmacogenetics and Cardiovascular Events
    Bruce Psaty; Fiscal Year: 2006
    ..The primary defense is replication: we would therefore welcome collaboration from others in the Pharmacogenetics Network in validation efforts. ..
  65. Oxidative Stress, DNA Repair & Colorectal Adenoma Risk
    Michael Goodman; Fiscal Year: 2009
    ..The resulting data will be analyzed using multivariate unconditional logistic regression models. Particular attention will be paid to identification of potential gene- gene, gene-lifestyle, and gene-phenotype interactions. ..
  66. BREAST CANCER IN WOMEN OF POLISH ANCESTRY
    Dorothy Pathak; Fiscal Year: 2001
    ..We propose to conduct two parallel, population-based case control studies of 20-74 years old incident BC cases in two populations: 1) Polish-born Immigrants, (378 cases and 378 ..
  67. BREAST CANCER IN WOMEN OF POLISH ANCESTRY
    Dorothy Pathak; Fiscal Year: 1999
    ..We propose to conduct two parallel, population-based case control studies of 20-74 years old incident BC cases in two populations: 1) Polish-born Immigrants, (378 cases and 378 ..
  68. Molecular Epidemiology of Smoking & Breast Cancer
    KATHLEEN CONWAY DORSEY; Fiscal Year: 2005
    ..If breast cancer can be attributed, in part, to cigarette smoking, then smoking prevention or cessation should reduce exposure and thus decrease the incidence of breast cancer. ..
  69. Hyperhomocysteinemia in Alzheimer's Disease
    Ramon Diaz Arrastia; Fiscal Year: 2003
    In the past years, two independent case control studies have established a correlation between elevated homocysteine levels and Alzheimer's Disease (AD)...
  70. CASE CROSSOVER STUDY OF OCCUPATIONAL HAND INJURIES
    Murray Mittleman; Fiscal Year: 2000
    ..This knowledge will facilitate the development of specific interventions designed to reduce the incidence of these injuries. ..
  71. DUST MITE, COCKROACH AND CAT ALLERGENS IN ASTHMA
    Thomas Platts Mills; Fiscal Year: 2001
    ..America, and the disease appears to be increasing both in prevalence and severity. Case control studies on emergency room patients suggest that greater or equal to 40% of adult asthma and as much as 75% of ..
  72. SEVERE PERIODONTITIS AS A RHEOLOGIC MODIFIER
    STEVEN ENGEBRETSON; Fiscal Year: 2003
    ..Dr. Engebretson will receive training in research methodology and molecular biology in order to explore the mechanisms of periodontal medicine through the conduct of human clinical studies as a career goal. ..
  73. ECHOCARDIOGRAPHIC STROKE PREDICTORS IN A TRI-ETHNIC COMM
    Marco Di Tullio; Fiscal Year: 2003
    ..This study will be the first prospective cohort study to evaluate the role of multiple echocardiographic risk factors for ischemic stroke in a community of whites, blacks and Hispanics living in the same area. ..
  74. Study design importance in analyzing emerging pathogens
    Anthony Harris; Fiscal Year: 2005
    ..The second aim will be done by combining epidemiological relatedness and molecular relatedness through pulse-field gel electrophoresis of ESBL cultures to quantify the importance of patient to patient transmission. ..
  75. Predictors and Outcomes of Pneumonia after Stroke
    Irene Katzan; Fiscal Year: 2007
    ..Combined with rigorous coursework in research methods, this body of work will establish a solid foundation for the candidate's long-term goals. [unreadable] [unreadable]..