Research Topics
Genomes and Genes
| case control studiesSummarySummary: 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
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Publications
Principal components analysis corrects for stratification in genome-wide association studiesAlkes 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...
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other lociJohn B Harley
Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, Oklahoma 73104, USA
Nat Genet 40:204-10. 2008..Our results show that numerous genes, some with known immune-related functions, predispose to SLE...
C-reactive protein and other markers of inflammation in the prediction of cardiovascular disease in womenP 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...
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesityTimothy 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...
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populationsHiroyuki 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)...
Strong association of de novo copy number mutations with autismJonathan 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...
Epidemiologic classification of human papillomavirus types associated with cervical cancerNubia 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...
Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): case-control studySalim 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...
Efficiency and power in genetic association studiesPaul 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...
Newly identified genetic risk variants for celiac disease related to the immune responseKaren A Hunt
Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, 4 Newark Street, London E1 2AT, UK
Nat Genet 40:395-402. 2008..Type 1 diabetes and celiac disease share HLA-DQ, IL2-IL21, CCR3 and SH2B3 risk regions. Thus, this extensive genome-wide association follow-up study has identified additional celiac disease risk variants in relevant biological pathways...
A new multipoint method for genome-wide association studies by imputation of genotypesJonathan 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...
A frameshift mutation in NOD2 associated with susceptibility to Crohn's diseaseY 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...
Variation in FTO contributes to childhood obesity and severe adult obesityChristian 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...
Bayesian inference of epistatic interactions in case-control studiesYu Zhang
Department of Statistics, The Pennsylvania State University, Thomas Building 422A, University Park, Pennsylvania 16802, USA
Nat Genet 39:1167-73. 2007....
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophreniaTom 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...
Cumulative association of five genetic variants with prostate cancerS 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...
A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease lociYing 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)...
Score tests for association between traits and haplotypes when linkage phase is ambiguousDaniel 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...
Common variants near MC4R are associated with fat mass, weight and risk of obesityRuth J F Loos
MRC Epidemiology Unit, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
Nat Genet 40:768-75. 2008....
Genome-wide association study identifies novel breast cancer susceptibility lociDouglas 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...
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthmaMiriam 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...
A genome-wide association study identifies IL23R as an inflammatory bowel disease geneRichard H Duerr
Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, University of Pittsburgh Medical Center Presbyterian, Mezzanine Level, C Wing, 200 Lothrop Street, Pittsburgh, PA 15213, USA
Science 314:1461-3. 2006..These results and previous studies on the proinflammatory role of IL-23 prioritize this signaling pathway as a therapeutic target in inflammatory bowel disease...
Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPsScott 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...
Variants in MTNR1B influence fasting glucose levelsInga 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...
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibilityAndre 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...
PGA: power calculator for case-control genetic association analysesIdan 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...
Use of gastric acid-suppressive agents and the risk of community-acquired Clostridium difficile-associated diseaseSandra 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...
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 studyAnnika Rosengren
Sahlgrenska University Hospital/Ostra, , Sweden
Lancet 364:953-62. 2004..INTERPRETATION: Presence of psychosocial stressors is associated with increased risk of acute myocardial infarction, suggesting that approaches aimed at modifying these factors should be developed...
Constitutional short telomeres are strong genetic susceptibility markers for bladder cancerKarin 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...
Dendritic cells are functionally defective in multiple myeloma: the role of interleukin-6Marina 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...
Association of serum adiponectin levels with breast cancer riskYasuo 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...
Trend tests for case-control studies of genetic markers: power, sample size and robustnessB 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...
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2Honglin 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))...
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variantsLaura 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...
Protective effect of complement factor B and complement component 2 variants in age-related macular degenerationKylee 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...
Variation near complement factor I is associated with risk of advanced AMDJesen A Fagerness
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
Eur J Hum Genet 17:100-4. 2009..No obvious functional variation was discovered that could be the proximate cause of the association, suggesting a noncoding regulatory mechanism...
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetesSergey 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...
Radon in homes and risk of lung cancer: collaborative analysis of individual data from 13 European case-control studiesS 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...
Calcium plus vitamin D supplementation and the risk of breast cancerRowan 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...
Epidemiologic evaluation of measurement data in the presence of detection limitsJay 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...
Malignancies, prothrombotic mutations, and the risk of venous thrombosisJeanet W Blom
Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
JAMA 293:715-22. 2005..Carriers of the factor V Leiden and prothrombin 20210A mutations appear to have an even higher risk...
A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunitiesYuta 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...
Oxidative stress markers in aqueous humor of glaucoma patientsSandra 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...
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndromeP 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...
Circulating angiogenic factors and the risk of preeclampsiaRichard 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...
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibilityMargaret 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...
New susceptibility locus for coronary artery disease on chromosome 3q22.3Jeanette 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)...
Rare chromosomal deletions and duplications increase risk of schizophreniaJennifer L Stone
Nature 455:237-41. 2008..Our results provide strong support for a model of schizophrenia pathogenesis that includes the effects of multiple rare structural variants, both genome-wide and at specific loci...
Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitisAndre Franke
Institute for Clinical Molecular Biology, Christian Albrechts University, D 24105 Kiel, Germany
Nat Genet 40:713-5. 2008..Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection...
Serum 25-hydroxyvitamin D and risk of post-menopausal breast cancer--results of a large case-control studySascha Abbas
Division of Cancer Epidemiology, German Cancer Research Center, 69120 Heidelberg, Germany
Carcinogenesis 29:93-9. 2008....
A predominantly clonal multi-institutional outbreak of Clostridium difficile-associated diarrhea with high morbidity and mortalityVivian G Loo
Department of Microbiology, McGill University Health Center, Montreal, Que, Canada
N Engl J Med 353:2442-9. 2005..In March 2003, several hospitals in Quebec, Canada, noted a marked increase in the incidence of Clostridium difficile-associated diarrhea...
Multiple newly identified loci associated with prostate cancer susceptibilityRosalind A Eeles
The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
Nat Genet 40:316-21. 2008..7 x 10(-29)). We confirmed previous reports of common loci associated with prostate cancer at 8q24 and 17q. Moreover, we found that three of the newly identified loci contain candidate susceptibility genes: MSMB, LMTK2 and KLK3...
Hepatitis B virus genotype and DNA level and hepatocellular carcinoma: a prospective study in menMing Whei Yu
Department of Public Health, Graduate Institute of Epidemiology, College of Public Health, National Taiwan University, Taipei, Taiwan
J Natl Cancer Inst 97:265-72. 2005..Although chronic infection with hepatitis B virus (HBV) has been established as a cause of hepatocellular carcinoma (HCC), the roles of viral load and HBV genotype remain unclear...
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancerSimon 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...
Newly identified loci that influence lipid concentrations and risk of coronary artery diseaseCristen J Willer
Center for Statistical Genetics, Department of Biostatistics, University of Michigan, 1420 Washington Heights, Ann Arbor, Michigan 48109, USA
Nat Genet 40:161-9. 2008..Notably, the 11 independent variants associated with increased LDL cholesterol concentrations in our study also showed increased frequency in a sample of coronary artery disease cases versus controls...
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancerSimon N Stacey
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 40:703-6. 2008..The nearest gene, MRPS30, was previously implicated in apoptosis, ER-positive tumors and favorable prognosis. A recently reported signal in FGFR2 was also found to associate specifically with ER-positive breast cancer...
Multiple sclerosis: microRNA expression profiles accurately differentiate patients with relapsing-remitting disease from healthy controlsAndreas Keller
febit biomed gmbh, Heidelberg, Germany
PLoS ONE 4:e7440. 2009..The implications of our study are twofold. The miRNA expression profiles in blood cells may serve as a biomarker for MS, and deregulation of miRNA expression may play a role in the pathogenesis of MS...
5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE reviewL 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...
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristicsMontserrat Garcia-Closas
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Marylan, United States of America
PLoS Genet 4:e1000054. 2008..Understanding the etiologic heterogeneity of breast cancer may ultimately result in improvements in prevention, early detection, and treatment...
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibilityMiles 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...
Novel speckle-tracking radial strain from routine black-and-white echocardiographic images to quantify dyssynchrony and predict response to cardiac resynchronization therapyMatthew S Suffoletto
The Cardiovascular Institute, University of Pittsburgh, Pittsburgh, PA 15213-2582, USA
Circulation 113:960-8. 2006..05). CONCLUSIONS: Speckle-tracking radial strain can quantify dyssynchrony and predict immediate and long-term response to CRT and has potential for clinical application...
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetesJohn A Todd
Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, University of Cambridge, Addenbrooke s Hospital, Cambridge CB2 0XY, UK
Nat Genet 39:857-64. 2007..Several regions, including 18q22 and 18p11, showed association with autoimmune thyroid disease. This study increases the number of T1D loci with compelling evidence from six to at least ten...
Cellular-telephone use and brain tumorsP D Inskip
Epidemiology and Biostatistics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA
N Engl J Med 344:79-86. 2001..If such a risk does exist, the matter would be of considerable public health importance, given the rapid increase worldwide in the use of these devices...
C-reactive protein and other circulating markers of inflammation in the prediction of coronary heart diseaseJohn 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..62 to 2.16). CONCLUSIONS: C-reactive protein is a relatively moderate predictor of coronary heart disease. Recommendations regarding its use in predicting the likelihood of coronary heart disease may need to be reviewed...
Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymph ConsortiumNathaniel 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)...
Cortical activity in Parkinson's disease during executive processing depends on striatal involvementOury Monchi
Functional Neuroimaging Unit, Research Centre, Institut Universitaire de Geriatrie de Montreal, Montreal, Quebec, Canada
Brain 130:233-44. 2007....
Diastolic heart failure--abnormalities in active relaxation and passive stiffness of the left ventricleMichael R Zile
Cardiology Division, Department of Medicine, Gazes Cardiac Research Institute, Medical University of South Carolina, Charleston 29425, USA
N Engl J Med 350:1953-9. 2004..It has traditionally been thought that the pathophysiological cause of heart failure in these patients is an abnormality in the diastolic properties of the left ventricle; however, this hypothesis remains largely unproven...
Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosisLuis B Barreiro
CNRS FRE2849, Unit of Molecular Prevention and Therapy of Human Diseases, Institut Pasteur, Paris, France
PLoS Med 3:e20. 2006..We reasoned that if DC-SIGN interacts with M. tuberculosis, as well as with other pathogens, variation in this gene might have a broad range of influence in the pathogenesis of a number of infectious diseases, including tuberculosis...
A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarctionAnna Helgadottir
deCODE Genetics, Inc, Sturlugata 8, IS 101 Reykjavik, Iceland
Nat Genet 38:68-74. 2006..Interactions with other genetic or environmental risk factors that are more common in African Americans are likely to account for the greater relative risk conferred by HapK in this group...
Complement factor H polymorphism in age-related macular degenerationRobert 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...
Smoking and cervical cancer: pooled analysis of the IARC multi-centric case--control studyMartyn Plummer
Unit of Field and Intervention Studies, International Agency for Research on Cancer, 150 cours Albert Thomas, F 69372 Lyon, France
Cancer Causes Control 14:805-14. 2003..This analysis is part of a series of analyses of cofactors of HPV in the aetiology of cervical cancer...
Common variants at CD40 and other loci confer risk of rheumatoid arthritisSoumya Raychaudhuri
Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
Nat Genet 40:1216-23. 2008..1 x 10(-7) overall), CDK6 (rs42041, P = 0.010 replication, P = 4.0 x 10(-6) overall), PRKCQ (rs4750316, P = 0.0078 replication, P = 4.4 x 10(-6) overall), and KIF5A-PIP4K2C (rs1678542, P = 0.0026 replication, P = 8.8 x 10(-8) overall)...
Limitations of the odds ratio in gauging the performance of a diagnostic, prognostic, or screening markerMargaret Sullivan Pepe
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA
Am J Epidemiol 159:882-90. 2004..In addition, the serious pitfalls of using more traditional methods based on parameters in logistic regression models are illustrated...
Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13Anne Barton
Arthritis Research Campaign, Epidemiology Unit, The University of Manchester, Manchester, UK
Nat Genet 40:1156-9. 2008....
Exposure to traffic and the onset of myocardial infarctionAnnette Peters
Institute of Epidemiology, GSF National Research Center for Environment and Health, Neuherberg, Germany
N Engl J Med 351:1721-30. 2004..This study was designed to assess whether exposure to traffic can trigger myocardial infarction...
Loss of functional suppression by CD4+CD25+ regulatory T cells in patients with multiple sclerosisVissia Viglietta
Laboratory of Molecular Immunology, Center for Neurologic Diseases, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA
J Exp Med 199:971-9. 2004..These data are the first to demonstrate alterations of CD4+CD25hi regulatory T cell function in patients with MS...
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinomaMaria Teresa Landi
Division of Cancer Epidemiology, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Am J Hum Genet 85:679-91. 2009..In conclusion, a lung cancer GWAS identified a distinct hereditary contribution to adenocarcinoma...
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility lociPhilip L De Jager
Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
Nat Genet 41:776-82. 2009....
Low plasma adiponectin levels and risk of colorectal cancer in men: a prospective studyEsther K Wei
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, and Harvard Medical School, Boston, MA 02115, USA
J Natl Cancer Inst 97:1688-94. 2005..Because both adiposity and insulin resistance have been associated with risk of colorectal cancer, we hypothesized that adiponectin is associated with colorectal carcinogenesis...
Cellular phones, cordless phones, and the risks of glioma and meningioma (Interphone Study Group, Germany)Joachim Schüz
Institute of Medical Biostatistics, Epidemiology and Informatics, Johannes Gutenberg University of Mainz, Mainz, Germany
Am J Epidemiol 163:512-20. 2006..In conclusion, no overall increased risk of glioma or meningioma was observed among these cellular phone users; however, for long-term cellular phone users, results need to be confirmed before firm conclusions can be drawn...
MYH9 is associated with nondiabetic end-stage renal disease in African AmericansW H Linda Kao
Department of Epidemiology, School of Medicine and Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland 21287, USA
Nat Genet 40:1185-92. 2008....
Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery diseaseHeribert Schunkert
Medizinische Klinik II, Universitat zu Lubeck, Lubeck, Germany
Circulation 117:1675-84. 2008..3 as affecting the risk of coronary artery disease (CAD). We investigated the association of this locus with CAD in 7 case-control studies and undertook a meta-analysis...
Single-nucleotide polymorphisms in the Toll-like receptor 9 gene (TLR9): frequencies, pairwise linkage disequilibrium, and haplotypes in three U.S. ethnic groups and exploratory case-control disease association studiesRoss Lazarus
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Genomics 81:85-91. 2003..This study suggests that there is substantial diversity in human TLR9, possibly associated with asthma in Europeans but not African Americans. No association was detected with three other diseases potentially related to innate immunity...
Effectiveness of inactivated influenza vaccines varied substantially with antigenic match from the 2004-2005 season to the 2006-2007 seasonEdward A Belongia
Epidemiology Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin 54449, USA
J Infect Dis 199:159-67. 2009..We estimated the effectiveness of inactivated influenza vaccines for the prevention of laboratory-confirmed, medically attended influenza during 3 seasons with variable antigenic match between vaccine and patient strains...
Hepatitis C risk factors in Iranian volunteer blood donors: a case-control studySeyed Moayed Alavian
Tehran Hepatitis Center, Tehran, Iran
J Gastroenterol Hepatol 17:1092-7. 2002..In order to evaluate some possible risk factors for the spread of hepatitis C infection a case-control study was undertaken...
Resistin and type 2 diabetes: regulation of resistin expression by insulin and rosiglitazone and the effects of recombinant resistin on lipid and glucose metabolism in human differentiated adipocytesPhilip G McTernan
Department of Medicine, University of Birmingham and Heartlands Hospital, Edgbaston Birmingham, United Kingdom B15 2TH
J Clin Endocrinol Metab 88:6098-106. 2003..Our in vitro studies suggest a modest effect of resistin in reducing glucose uptake, and suppression of resistin expression may contribute to the insulin-sensitizing and glucose-lowering actions of the thiazolidinediones...
Folate intake, MTHFR polymorphisms, and risk of esophageal, gastric, and pancreatic cancer: a meta-analysisSusanna C Larsson
Division of Nutritional Epidemiology, National Institute of Environmental Medicine, Karolinska Institutet, SE 171 77 Stockholm, Sweden
Gastroenterology 131:1271-83. 2006....
High prevalence of Escherichia coli belonging to the B2+D phylogenetic group in inflammatory bowel diseaseRoman Kotlowski
Department of Animal Science, University of Manitoba, Winnipeg, Manitoba, Canada
Gut 56:669-75. 2007..One way of determining which bacteria might be likely candidates is to use culture-independent methods to identify microorganisms that are present in diseased tissues but not in controls...
Gene expression profiling of minor salivary glands clearly distinguishes primary Sjögren's syndrome patients from healthy control subjectsTrond Ove R Hjelmervik
Faculty of Dentistry, University of Bergen, Broegelmann Research Laboratory, University of Bergen, and Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
Arthritis Rheum 52:1534-44. 2005..To identify gene expression signatures in minor salivary glands (MSGs) from patients with primary Sjogren's syndrome (SS)...
Circumferential strain analysis identifies strata of cardiomyopathy in Duchenne muscular dystrophy: a cardiac magnetic resonance tagging studyKan N Hor
Department of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
J Am Coll Cardiol 53:1204-10. 2009..This study sought to evaluate the natural history of occult cardiac dysfunction in Duchenne muscular dystrophy (DMD)...
Systemic complement activation in age-related macular degenerationHendrik P N Scholl
Department of Ophthalmology, University of Bonn, Bonn, Germany
PLoS ONE 3:e2593. 2008..Furthermore, the data provide evidence for an association of systemic activation of the alternative complement pathway with genetic variants of CFH that were previously linked to AMD susceptibility...
Haplotypes of IL-10 promoter variants are associated with susceptibility to severe malarial anemia and functional changes in IL-10 productionCollins Ouma
Centre for Global Health Research, Kenya Medical Research Institute, University of New Mexico KEMRI Laboratories of Parasitic and Viral Diseases, Kisumu, Kenya
Hum Genet 124:515-24. 2008..006). Results presented here demonstrate that common IL-10 promoter haplotypes condition susceptibility to SMA and functional changes in circulating IL-10, TNF-alpha, and IL-12 levels in children with falciparum malaria...
Parental age and risk of childhood cancer: a pooled analysisKimberly J Johnson
Division of Epidemiology Clinical Research, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA
Epidemiology 20:475-83. 2009..Few risk factors for childhood cancer are well-established. We investigated whether advancing parental age increases childhood cancer risk...
Investigation of the single case in neuropsychology: confidence limits on the abnormality of test scores and test score differencesJ 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...
Abnormal intestinal permeability in subgroups of diarrhea-predominant irritable bowel syndromesSimon P Dunlop
Wolfson Digestive Diseases Centre and Division of Medical Physics, University Hospital, Nottingham, United Kingdom
Am J Gastroenterol 101:1288-94. 2006..Our aim was to compare small and large intestinal permeability in various subtypes of IBS to healthy controls...
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathyAnne Rovelet-Lecrux
Inserm U614 IFRMP, Faculty of Medicine, Rouen, France
Nat Genet 38:24-6. 2006..37 Mb. Brains from individuals with APP duplication showed abundant parenchymal and vascular deposits of amyloid-beta peptides. Duplication of the APP locus, resulting in accumulation of amyloid-beta peptides, causes ADEOAD with CAA...
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaRob W J Collin
Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
Am J Hum Genet 83:594-603. 2008..With a size of 2 Mb, it is one of the largest human genes, and it is by far the largest retinal dystrophy gene. The discovery of EYS might shed light on a critical component of photoreceptor morphogenesis...
Update on the use of dehydroepiandrosterone supplementation among women with diminished ovarian functionDavid Barad
Department of Epidemiology and Social Medicine, Albert Einstein College of Medicine, Bronx, NY, USA
J Assist Reprod Genet 24:629-34. 2007..We assessed the role of DHEA supplementation on pregnancy rates in women with diminished ovarian function...
Serum C-peptide, insulin-like growth factor (IGF)-I, IGF-binding proteins, and colorectal cancer risk in womenR Kaaks
International Agency for Research on Cancer, Lyon, France
J Natl Cancer Inst 92:1592-600. 2000..To test this hypothesis, we conducted a case-control study nested within a cohort of 14 275 women in New York...
Low serum vitamin D levels and tuberculosis: a systematic review and meta-analysisKelechi E Nnoaham
Department of Public Health, Oxfordshire Primary Care Trust, Richard Building, Old Road Campus, Headington, Oxford OX3 7LG, UK
Int J Epidemiol 37:113-9. 2008..To explore the association between low serum vitamin D and risk of active tuberculosis in humans...
Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic diseaseElke Rodriguez
Division of Environmental Dermatology and Allergy, Helmholtz Zentrum Munich and ZAUM Center for Allergy and Environment, Technische Universitat Munchen, Munich, Germany
J Allergy Clin Immunol 123:1361-70.e7. 2009..However, published studies demonstrate differences concerning design and effect size, and conflicting results for asthma have been reported...
Research Grants
- Prospective studies of cancer etiology and prevention in Shanghai and SingaporeJian Min Yuan; Fiscal Year: 2010..The findings of the proposed study will have great impact on reducing incidence and mortality of lung and liver cancers in humans. ..
- Risk Factors for Molecularly Defined Subgroups of Lymphoma: A Pooled AnalysisBrian Chiu; Fiscal Year: 2007..This project directly responds to the NCI strategic plan for cancer preemption because it can elucidate the etiology of NHL. ..
- Pharmacogenetics and Cardiovascular EventsBruce Psaty; Fiscal Year: 2006..The primary defense is replication: we would therefore welcome collaboration from others in the Pharmacogenetics Network in validation efforts. ..
- Oxidative Stress, DNA Repair & Colorectal Adenoma RiskMichael Goodman; Fiscal Year: 2009..Particular attention will be paid to identification of potential gene- gene, gene-lifestyle, and gene-phenotype interactions. ..
- Oxidative Stress, DNA Repair & Colorectal Adenoma RiskMichael Goodman; Fiscal Year: 2007..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. ..
- BREAST CANCER IN WOMEN OF POLISH ANCESTRYDorothy 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 ..
- Molecular Epidemiology of Smoking & Breast CancerKATHLEEN 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. ..
- Breast Carcinoma in situ: Predicting Risk and OutcomesAmy Trentham Dietz; Fiscal Year: 2010..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. ..
- Hyperhomocysteinemia in Alzheimer's DiseaseRamon Diaz Arrastia; Fiscal Year: 2003In the past years, two independent case control studies have established a correlation between elevated homocysteine levels and Alzheimer's Disease (AD)...
- DUST MITE, COCKROACH AND CAT ALLERGENS IN HOUSES/ASTHMAThomas Platts Mills; Fiscal Year: 1992..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 ..
- SEVERE PERIODONTITIS AS A RHEOLOGIC MODIFIERSTEVEN 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. ..
- ECHOCARDIOGRAPHIC STROKE PREDICTORS IN A TRI-ETHNIC COMMMarco 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. ..
- Human neurobehavioral phenotypes associates with the extended PWS/AS domainArthur L Beaudet; Fiscal Year: 2010..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...
- Physical Activity and Pelvic Floor DisordersIngrid Nygaard; Fiscal Year: 2009..Given the health benefits of activity, we believe that women should be encouraged to be active unless there is scientific evidence to the contrary. ..
- Physical Activity and Pelvic Floor DisordersIngrid E Nygaard; Fiscal Year: 2010..Given the health benefits of activity, we believe that women should be encouraged to be active unless there is scientific evidence to the contrary. ..
- Molecular Epidemiology of Chronic Liver DiseasesManal Hassan; Fiscal Year: 2007..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. ..
- Study design importance in analyzing emerging pathogensAnthony 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. ..
- Immunology, Inflammation, and EndometriosisStacey Missmer; Fiscal Year: 2009..We believe that quantifying these factors may improve our understanding of the etiology and consequences of endometriosis. ..
- microRNA expression profiling of benign breast tissue and breast cancer riskThomas E Rohan; Fiscal Year: 2010..g., by enabling chemoprevention to be targeted to specific subgroups of women). ..
- Predictors and Outcomes of Pneumonia after StrokeIrene 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. ..
- Upstream regulators of the prothrombotic stateWilliam Young; Fiscal Year: 2007..We will use statistical methods of correction for population stratification (genomic adjustment) to analyze the association between AVMs and a series of candidate genes in case-control analyses. ..
