genetic polymorphism

Summary

Summary: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.

Top Publications

  1. ncbi Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene
    Avshalom Caspi
    Medical Research Council Social, Genetic, and Developmental Psychiatry Research Centre, Institute of Psychiatry, King s College London, PO80 De Crespigny Park, London, SE5 8AF, UK
    Science 301:386-9. 2003
  2. ncbi Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region
    K P Lesch
    Department of Psychiatry, University of Wurzburg, Fuchsleinstrasse 15, 97080 Wurzburg, Germany
    Science 274:1527-31. 1996
  3. ncbi 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease?
    George Davey Smith
    University of Bristol, Department of Social Medicine, Canynge Hall, Whiteladies Road, Bristol BS8 2PR, UK
    Int J Epidemiol 32:1-22. 2003
  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 Adaptive protein evolution at the Adh locus in Drosophila
    J H McDonald
    Department of Ecology and Evolutionary Biology, Princeton University, New Jersey 08544
    Nature 351:652-4. 1991
  6. ncbi Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions
    Lance W Hahn
    Program in Human Genetics and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical School, Nashville, TN 37232 0700, USA
    Bioinformatics 19:376-82. 2003
  7. ncbi DnaSP, DNA polymorphism analyses by the coalescent and other methods
    Julio Rozas
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Diagonal 645, 08071 Barcelona, Spain
    Bioinformatics 19:2496-7. 2003
  8. ncbi Genetic diversity and chloroquine selective sweeps in Plasmodium falciparum
    John C Wootton
    Computational Biology Branch, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland 20894 6075, USA
    Nature 418:320-3. 2002
  9. pmc Statistical tests of neutrality of mutations against population growth, hitchhiking and background selection
    Y X Fu
    Human Genetics Center, University of Texas, Houston 77225, USA
    Genetics 147:915-25. 1997
  10. ncbi Serotonin transporter genetic variation and the response of the human amygdala
    Ahmad R Hariri
    Clinical Brain Disorders Branch, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
    Science 297:400-3. 2002

Detail Information

Publications354 found, 100 shown here

  1. ncbi Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene
    Avshalom Caspi
    Medical Research Council Social, Genetic, and Developmental Psychiatry Research Centre, Institute of Psychiatry, King s College London, PO80 De Crespigny Park, London, SE5 8AF, UK
    Science 301:386-9. 2003
    ..This epidemiological study thus provides evidence of a gene-by-environment interaction, in which an individual's response to environmental insults is moderated by his or her genetic makeup...
  2. ncbi Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region
    K P Lesch
    Department of Psychiatry, University of Wurzburg, Fuchsleinstrasse 15, 97080 Wurzburg, Germany
    Science 274:1527-31. 1996
    ....
  3. ncbi 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease?
    George Davey Smith
    University of Bristol, Department of Social Medicine, Canynge Hall, Whiteladies Road, Bristol BS8 2PR, UK
    Int J Epidemiol 32:1-22. 2003
    ....
  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 Adaptive protein evolution at the Adh locus in Drosophila
    J H McDonald
    Department of Ecology and Evolutionary Biology, Princeton University, New Jersey 08544
    Nature 351:652-4. 1991
    ..We suggest that these excess replacement substitutions result from adaptive fixation of selectively advantageous mutations...
  6. ncbi Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions
    Lance W Hahn
    Program in Human Genetics and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical School, Nashville, TN 37232 0700, USA
    Bioinformatics 19:376-82. 2003
    ..In this paper, we describe the MDR approach and an MDR software package...
  7. ncbi DnaSP, DNA polymorphism analyses by the coalescent and other methods
    Julio Rozas
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Diagonal 645, 08071 Barcelona, Spain
    Bioinformatics 19:2496-7. 2003
    ....
  8. ncbi Genetic diversity and chloroquine selective sweeps in Plasmodium falciparum
    John C Wootton
    Computational Biology Branch, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland 20894 6075, USA
    Nature 418:320-3. 2002
    ..The presence of linkage disequilibrium provides a basis for mapping genes under drug selection in P. falciparum...
  9. pmc Statistical tests of neutrality of mutations against population growth, hitchhiking and background selection
    Y X Fu
    Human Genetics Center, University of Texas, Houston 77225, USA
    Genetics 147:915-25. 1997
    ..We show that Fu and Li's tests are among the most powerful tests against background selection. Implications of these results are discussed...
  10. ncbi Serotonin transporter genetic variation and the response of the human amygdala
    Ahmad R Hariri
    Clinical Brain Disorders Branch, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
    Science 297:400-3. 2002
    ....
  11. ncbi Human DNA repair genes
    R D Wood
    Imperial Cancer Research Fund, Clare Hall Laboratories, Blanche Lane, South Mimms, Herts EN6 3LD, UK
    Science 291:1284-9. 2001
    ..Modulation of DNA repair should lead to clinical applications including improvement of radiotherapy and treatment with anticancer drugs and an advanced understanding of the cellular aging process...
  12. pmc Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo
    S Hoffmeyer
    Epidauros Biotechnology, Pharmacogenetics Laboratory, Am Neuland 1, D 82347 Bernried, Germany
    Proc Natl Acad Sci U S A 97:3473-8. 2000
    ..Homozygosity for this variant was observed in 24% of our sample population (n = 188). This polymorphism is expected to affect the absorption and tissue concentrations of numerous other substrates of MDR-1...
  13. pmc Hitchhiking under positive Darwinian selection
    J C Fay
    Committee on Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Genetics 155:1405-13. 2000
    ..Application of the H test to published surveys of Drosophila variation reveals an excess of high frequency variants that are likely to have been influenced by positive selection...
  14. 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...
  15. pmc SIFT: Predicting amino acid changes that affect protein function
    Pauline C Ng
    Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N A1 162, Seattle, WA 98109, USA
    Nucleic Acids Res 31:3812-4. 2003
    ..We have shown that SIFT can distinguish between functionally neutral and deleterious amino acid changes in mutagenesis studies and on human polymorphisms. SIFT is available at http://blocks.fhcrc.org/sift/SIFT.html...
  16. ncbi Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders
    H M Lachman
    Department of Medicine, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Pharmacogenetics 6:243-50. 1996
    Catechol-O-methyltransferase (COMT) inactivates catecholamines and catechol drugs such as L-DOPA. A common genetic polymorphism in humans is associated with a three-to-four-fold variation in COMT enzyme activity and is also associated ..
  17. ncbi Genetics and biology of vitamin D receptor polymorphisms
    Andre G Uitterlinden
    Genetic Laboratory, Room Ee575, Department of Internal Medicine, Erasmus MC, Dr Molewaterplein 50, PO Box 1738, NL 3000 DR Rotterdam, The Netherlands
    Gene 338:143-56. 2004
    ..Substantial progress has been made that will deepen our understanding of variability in the vitamin D endocrine system and might find applications in risk assessment of disease and in predicting response-to-treatment...
  18. ncbi Using genome scans of DNA polymorphism to infer adaptive population divergence
    Jay F Storz
    Department of Biology, San Francisco State University, 1600 Holloway Avenue, San Francisco, CA 94132, USA
    Mol Ecol 14:671-88. 2005
    ..Finally, I consider the evolutionary and functional insights that might be gained by conducting genome scans for loci involved in adaptive population divergence...
  19. ncbi Adaptive protein evolution in Drosophila
    Nick G C Smith
    Centre for the Study of Evolution and School of Biological Sciences, University of Sussex, Brighton BN1 9QG, UK
    Nature 415:1022-4. 2002
    ..yakuba. We estimate that 45% of all amino-acid substitutions have been fixed by natural selection, and that on average one adaptive substitution occurs every 45 years in these species...
  20. pmc Mycobacterium tuberculosis complex genetic diversity: mining the fourth international spoligotyping database (SpolDB4) for classification, population genetics and epidemiology
    Karine Brudey
    Unite de la Tuberculose et des Mycobacteries, Institut Pasteur de Guadeloupe, Guadeloupe
    BMC Microbiol 6:23. 2006
    ....
  21. pmc Structure of linkage disequilibrium and phenotypic associations in the maize genome
    D L Remington
    Department of Genetics, North Carolina State University, Raleigh, NC 27695 7614, USA
    Proc Natl Acad Sci U S A 98:11479-84. 2001
    ..Provided the effects of population structure are effectively controlled, this research suggests that association studies show great promise for identifying the genetic basis of important traits in maize with very high resolution...
  22. pmc Diversity Arrays Technology (DArT) for whole-genome profiling of barley
    Peter Wenzl
    Center for the Application of Molecular Biology to International Agriculture, G P O Box 3200, Canberra, ACT 2601, Australia
    Proc Natl Acad Sci U S A 101:9915-20. 2004
    ..These results highlight the potential of DArT as a generic technique for genome profiling in the context of molecular breeding and genomics...
  23. pmc Genetic interactions between polymorphisms that affect gene expression in yeast
    Rachel B Brem
    Program in Computational Biology, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N, M2 B876, Seattle, Washington 98109, USA
    Nature 436:701-3. 2005
    ..Our results indicate that genetic interactions are widespread in the genetics of transcript levels, and that many QTLs will be missed by single-locus tests but can be detected by two-stage tests that allow for interactions...
  24. ncbi A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
    I Weisberg
    Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, H3Z 2Z3, Canada
    Mol Genet Metab 64:169-72. 1998
    ..A silent genetic variant, T1317C, was identified in the same exon. It was relatively infrequent (allele frequency 5%) in our study group, but was quite common in a small sample of African individuals (allele frequency 39%)...
  25. 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...
  26. ncbi CRISPR elements in Yersinia pestis acquire new repeats by preferential uptake of bacteriophage DNA, and provide additional tools for evolutionary studies
    C Pourcel
    GPMS, Institut de Genetique et Microbiologie, Universite Paris XI, 91405 Orsay Cedex, France
    Microbiology 151:653-63. 2005
    ..This is believed to be the first time that the origin of the spacers in CRISPR elements has been explained. The CRISPR structure provides a new and robust identification tool...
  27. ncbi Genetics of gene expression surveyed in maize, mouse and man
    Eric E Schadt
    Rosetta Inpharmatics, LLC, 12040 115th Avenue N E, Kirkland, Washington 98034, USA
    Nature 422:297-302. 2003
    ..We identify a gene expression pattern strongly associated with obesity in a murine cross, and observe two distinct obesity subtypes. Furthermore, we find that these obesity subtypes are under the control of different loci...
  28. pmc Ecological niche partitioning between Anopheles gambiae molecular forms in Cameroon: the ecological side of speciation
    Frederic Simard
    Laboratoire de Lutte contre les Insectes Nuisibles, Institut de Recherche pour le Developpement, UR016, 911 Av Agropolis, Cedex 5, Montpellier, France
    BMC Ecol 9:17. 2009
    ....
  29. ncbi Genetic dissection of transcriptional regulation in budding yeast
    Rachel B Brem
    Fred Hutchinson Cancer Research Center FHCRC, 1100 Fairview Avenue North, D4 100, Seattle, WA 98109, USA and Howard Hughes Medical Institute
    Science 296:752-5. 2002
    ..We found eight such trans-acting loci, each affecting the expression of a group of 7 to 94 genes of related function...
  30. ncbi Development and mapping of 2240 new SSR markers for rice (Oryza sativa L.)
    Susan R McCouch
    Plant Breeding Dept, Cornell University, Ithaca, NY 14853 1901, USA
    DNA Res 9:199-207. 2002
    ..In combination with the pool of 500 previously mapped SSR markers, this release makes available a total of 2740 experimentally confirmed SSR markers for rice, or approximately one SSR every 157 kb...
  31. ncbi COMT val158met genotype affects mu-opioid neurotransmitter responses to a pain stressor
    Jon Kar Zubieta
    Department of Psychiatry and Mental Health Research Institute, University of Michigan, Ann Arbor, MI 48109 0720, USA
    Science 299:1240-3. 2003
    ..We examined the influence of a common functional genetic polymorphism affecting the metabolism of catecholamines on the modulation of responses to sustained pain in humans...
  32. pmc mreps: Efficient and flexible detection of tandem repeats in DNA
    Roman Kolpakov
    French Russian Institute for Informatics and Applied Mathematics, Moscow University, 119899 Moscow, Russia
    Nucleic Acids Res 31:3672-8. 2003
    ..The mreps web interface is accessible through http://www.loria.fr/mreps/...
  33. pmc Detecting a local signature of genetic hitchhiking along a recombining chromosome
    Yuseob Kim
    Department of Evolutionary Biology, University of Munich, 80333 Munich, Germany
    Genetics 160:765-77. 2002
    ..This method also allows us to estimate the strength and the location of directional selection from DNA sequence data...
  34. ncbi 5-HTTLPR polymorphism impacts human cingulate-amygdala interactions: a genetic susceptibility mechanism for depression
    Lukas Pezawas
    Genes, Cognition and Psychosis Program, National Institute of Mental Health, National Institutes of Health, 10 Center Drive 4S235, Bethesda, Maryland 20892 1379, USA
    Nat Neurosci 8:828-34. 2005
    ....
  35. ncbi Evidence of HIV-1 adaptation to HLA-restricted immune responses at a population level
    Corey B Moore
    Centre for Clinical Immunology and Biomedical Statistics, Royal Perth Hospital and Murdoch University, Level 2 North Block, Royal Perth Hospital, Wellington Street, WA 6000, Australia
    Science 296:1439-43. 2002
    ..At a population level, the degree of HLA-associated selection in viral sequence was predictive of viral load. These results support a fundamental role for HLA-restricted immune responses in driving and shaping HIV-1 evolution in vivo...
  36. ncbi Polymorphisms in DNA repair genes and associations with cancer risk
    Ellen L Goode
    Cancer Prevention Research Program, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Cancer Epidemiol Biomarkers Prev 11:1513-30. 2002
    ..Such studies may benefit from analysis of multiple genes or polymorphisms and from the consideration of relevant exposures that may influence the likelihood of cancer in the presence of reduced DNA repair capacity...
  37. ncbi Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans
    M R Shen
    Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
    Cancer Res 58:604-8. 1998
    ....
  38. ncbi Genome sequence of enterohaemorrhagic Escherichia coli O157:H7
    N T Perna
    Genome Center of Wisconsin, and Department of Animal Health and Biomedical Sciences, University of Wisconsin, Madison 53706, USA
    Nature 409:529-33. 2001
    ..These include candidate virulence factors, alternative metabolic capacities, several prophages and other new functions--all of which could be targets for surveillance...
  39. ncbi Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database
    Lars Bertram
    Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease MIND, Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
    Nat Genet 39:17-23. 2007
    ..67 for protective alleles). Our database provides a powerful tool for deciphering the genetics of Alzheimer disease, and it serves as a potential model for tracking the most viable gene candidates in other genetically complex diseases...
  40. ncbi Host-parasite coevolutionary conflict between Arabidopsis and downy mildew
    Rebecca L Allen
    Warwick, HRI University of Warwick, Wellesbourne, Warwick, CV35 9EF, UK
    Science 306:1957-60. 2004
    ....
  41. ncbi Positive natural selection in the human lineage
    P C Sabeti
    Broad Institute of MIT and Harvard, Cambridge, MA, USA
    Science 312:1614-20. 2006
    ....
  42. 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...
  43. ncbi Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review
    Rayjean J Hung
    Genetic Epidemiology Group, International Agency for Research on Cancer, Lyon, France
    Am J Epidemiol 162:925-42. 2005
    ..Recommendations for future studies include pooling of individual data to facilitate evaluation of multigenic effects and detailed analysis of effect modification by environmental exposure...
  44. ncbi Toll-like receptor 4 polymorphisms and atherogenesis
    Stefan Kiechl
    Department of Neurology, University Clinic, Innsbruck, Austria
    N Engl J Med 347:185-92. 2002
    ..We determined whether recently discovered genetic variants of toll-like receptor 4 (TLR4) that confer differences in the inflammatory response elicited by bacterial lipopolysaccharide are related to the development of atherosclerosis...
  45. ncbi Glutathione-S-transferase family of enzymes
    R C Strange
    Centre for Cell and Molecular Medicine, School of Postgraduate Medicine, Keele University, North Staffordshire Hospital, Stoke on Trent, Staffordshire, UK
    Mutat Res 482:21-6. 2001
    ..11 and 7.4, respectively) implying that the allelic variants exert a substantial biological effect. These and other data indicate the importance of GST polymorphism in determining disease phenotype...
  46. pmc A sequence-based genetic map of Medicago truncatula and comparison of marker colinearity with M. sativa
    Hong Kyu Choi
    Department of Plant Pathology, University of California, Davis, California 95616, USA
    Genetics 166:1463-502. 2004
    ..sativa. The resulting comparative map, which includes 68 bridging markers, indicates that the two Medicago genomes are highly similar and establishes the basis for a Medicago composite map...
  47. pmc Pattern of polymorphism after strong artificial selection in a domestication event
    Hideki Innan
    Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 101:10667-72. 2004
    ..These theoretical results are discussed in light of data collected from maize. Although the main focus of this article is on domestication, this model can also be generalized to describe selective sweeps from standing genetic variation...
  48. pmc A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC
    Paul I W de Bakker
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Seven Cambridge Center, Cambridge, Massachusetts 02142, USA
    Nat Genet 38:1166-72. 2006
    ....
  49. ncbi Perspective: detecting adaptive molecular polymorphism: lessons from the MHC
    Daniel Garrigan
    Department of Biology, Arizona State University, Tempe, Arizona 85287 1501, USA
    Evolution 57:1707-22. 2003
    ..Inference of the nature of the selection events that create such signals should be approached with caution. However, a combination of tests on different time scales may overcome such problems...
  50. ncbi Natural selection at major histocompatibility complex loci of vertebrates
    A L Hughes
    Department of Biology, Pennsylvania State University, University Park 16802, USA
    Annu Rev Genet 32:415-35. 1998
    ..d) Introns have been homogenized relative to exons over evolutionary time, suggesting that balancing selection acts to maintain diversity in the latter, in contrast to the former...
  51. ncbi XRCC1, XRCC3, XPD gene polymorphisms, smoking and (32)P-DNA adducts in a sample of healthy subjects
    G Matullo
    Dipartimento di Genetica, Biologia e Biochimica, Universita di Torino, 10126, Torino, ISI Foundation, Institute for Scientific Interchange, Villa Gualino, 10133, Torino, Italy
    Carcinogenesis 22:1437-45. 2001
    ..These data show that all the analysed polymorphisms could result in deficient DNA repair and suggest a need for further investigation into the possible interactions between these polymorphisms, smoking and other risk factors...
  52. ncbi Plasma concentrations and genetic variation of matrix metalloproteinase 9 and prognosis of patients with cardiovascular disease
    Stefan Blankenberg
    Department of Medicine II, Johannes Gutenberg University Mainz, Germany
    Circulation 107:1579-85. 2003
    ..However, epidemiological data evaluating the prognostic impact of circulating concentrations and functional genetic variations of MMP-9 are lacking...
  53. ncbi Libsequence: a C++ class library for evolutionary genetic analysis
    Kevin Thornton
    Committee on Genetics, University of Chicago, 1101 East 57th Street, Chicago, IL 66037, USA
    Bioinformatics 19:2325-7. 2003
    ..The object-oriented design of the library is intended to be extensible, allowing users to design custom classes for their own needs. In addition, routines are provided to process samples generated by a widely used coalescent simulation...
  54. pmc Statistical tests for detecting positive selection by utilizing high-frequency variants
    Kai Zeng
    State Key Laboratory of Biocontrol, Ministry of Education, Sun Yat Sen University, Guangzhou, China
    Genetics 174:1431-9. 2006
    ..We thus propose a joint test, referred to as the DH test. Simulations indicate that DH is indeed sensitive primarily to directional selection and no other driving forces...
  55. ncbi Pharmacogenomics: translating functional genomics into rational therapeutics
    W E Evans
    Department of Pharmaceutical Sciences, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Science 286:487-91. 1999
    ....
  56. ncbi Common sequence polymorphisms shaping genetic diversity in Arabidopsis thaliana
    Richard M Clark
    Department of Molecular Biology, Max Planck Institute for Developmental Biology, 72076 Tubingen, Germany
    Science 317:338-42. 2007
    ..Analyzing the polymorphisms we describe in larger sets of accessions will enable a detailed understanding of forces shaping population-wide sequence variation in A. thaliana...
  57. ncbi Linkage of early-onset familial breast cancer to chromosome 17q21
    J M Hall
    School of Public Health, University of California, Berkeley 94720
    Science 250:1684-9. 1990
    ..Likelihood ratios in favor of linkage heterogeneity among families ranged between 2000:1 and greater than 10(6):1 on the basis of multipoint analysis of four loci in the region...
  58. ncbi Global mapping of the yeast genetic interaction network
    Amy Hin Yan Tong
    Banting and Best Department of Medical Research, University of Toronto, Toronto, ON, Canada M5G 1L6
    Science 303:808-13. 2004
    ..Because digenic interactions are common in yeast, similar networks may underlie the complex genetics associated with inherited phenotypes in other organisms...
  59. 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...
  60. ncbi Vitamin D receptor gene polymorphisms in breast cancer
    Nur Buyru
    Cerrahpasa Medical Faculty, Department of Medical Biology, Istanbul University, Istanbul, Turkey
    Exp Mol Med 35:550-5. 2003
    ..Our data indicate that no significant differences exist between the patients and control subjects...
  61. ncbi Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
    J T den Dunnen
    MGC Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands corrected
    Hum Mutat 15:7-12. 2000
    ..In this article, suggestions are presented for reporting just such complex mutations...
  62. pmc Sequencing of natural strains of Arabidopsis thaliana with short reads
    Stephan Ossowski
    Department of Molecular Biology, Max Planck Institute for Developmental Biology, Tubingen, Germany
    Genome Res 18:2024-33. 2008
    ..Our pipeline for aligning reads and predicting SNPs and indels, SHORE, is available for download at http://1001genomes.org...
  63. 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...
  64. ncbi The balance between IL-1 and IL-1Ra in disease
    William P Arend
    B115 Division of Rheumatology, Health Sciences Centre, University of Colorado, 4200 East Ninth Avenue, Denver, CO 80262, USA
    Cytokine Growth Factor Rev 13:323-40. 2002
    ..Treatment of RA with daily subcutaneous injections of recombinant IL-1Ra protein has been shown to be efficacious. Gene therapy approaches with IL-1Ra are being evaluated for the treatment of RA and other human diseases...
  65. ncbi Genetic polymorphisms and alternative splicing of the hOGG1 gene, that is involved in the repair of 8-hydroxyguanine in damaged DNA
    T Kohno
    Biology Division, National Cancer Center Research Institute, Tokyo, Japan
    Oncogene 16:3219-25. 1998
    ..Due to a genetic polymorphism at codon 326, hOGG1-Ser326 and hOGG1-Cys326 proteins were produced in human cells...
  66. 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...
  67. ncbi VEGF gene sequence variation defines VEGF gene expression status and angiogenic activity in non-small cell lung cancer
    Michael I Koukourakis
    Department of Radiotherapy Oncology, Democritus University of Thrace, Alexandroupolis, Greece
    Lung Cancer 46:293-8. 2004
    ..The large variation in angiogenicity between tumors of similar histologic morphology emerges as a consequence of the 'parental' VEGF gene ability to produce VEGF...
  68. ncbi PER3 polymorphism predicts sleep structure and waking performance
    Antoine U Viola
    Surrey Sleep Research Centre, School of Biomedical and Molecular Sciences, University of Surrey, Guildford, UK
    Curr Biol 17:613-8. 2007
    ..The data show that this polymorphism in PER3 predicts individual differences in the sleep-loss-induced decrement in performance and that this differential susceptibility may be mediated by its effects on sleep homeostasis...
  69. ncbi Impaired repression at a 5-hydroxytryptamine 1A receptor gene polymorphism associated with major depression and suicide
    Sylvie Lemonde
    Ottawa Health Research Institute Neuroscience, University of Ottawa, Department of Medicine, Ottawa, Canada, K1H 8M5
    J Neurosci 23:8788-99. 2003
    ..We suggest a novel transcriptional model in which the G(-1019) allele derepresses 5-HT1A autoreceptor expression to reduce serotonergic neurotransmission, predisposing to depression and suicide...
  70. pmc The pattern of polymorphism in Arabidopsis thaliana
    Magnus Nordborg
    Molecular and Computational Biology, University of Southern California, Los Angeles, California, USA
    PLoS Biol 3:e196. 2005
    ..Despite this, our data support the utility of A. thaliana as a model for evolutionary functional genomics...
  71. ncbi Ten years of AFLP in ecology and evolution: why so few animals?
    Staffan Bensch
    Department of Animal Ecology, Ecology Building, Lund University, S 223 62 Lund, Sweden
    Mol Ecol 14:2899-914. 2005
    ..We hope this review will help molecular ecologists to identify when AFLP is likely to be superior to other more established methods, such as microsatellites, SNP (single nucleotide polymorphism) analyses and multigene DNA sequencing...
  72. pmc Nonrandom distribution and frequencies of genomic and EST-derived microsatellite markers in rice, wheat, and barley
    Mauricio La Rota
    Department of Plant Breeding and Genetics, 240 Emerson Hall, Cornell University, Ithaca, NY 14853, USA
    BMC Genomics 6:23. 2005
    ....
  73. ncbi The cost of inbreeding in Arabidopsis
    Carlos D Bustamante
    Department of Organismic and Evolutionary Biology, Harvard University, 16 Divinity Avenue, Cambridge, Massachusetts 02138, USA
    Nature 416:531-4. 2002
    ....
  74. pmc Positive and negative selection on noncoding DNA in Drosophila simulans
    Penelope R Haddrill
    Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh, United Kingdom
    Mol Biol Evol 25:1825-34. 2008
    ..simulans lineage difficult to reconcile with demographic explanations...
  75. ncbi Allelic variation of human serotonin transporter gene expression
    A Heils
    Department of Psychiatry, University of Wurzburg, Germany
    J Neurochem 66:2621-4. 1996
    ..Allelic variation in 5-HTT-related functions may play a role in the expression and modulation of complex traits and behavior...
  76. ncbi Contrasting patterns of X-linked and autosomal nucleotide variation in Drosophila melanogaster and Drosophila simulans
    P Andolfatto
    Institute of Cell, Animal and Population Biology, University of Edinburgh, Edinburgh, Scotland
    Mol Biol Evol 18:279-90. 2001
    ..melanogaster autosomes harbor an excess of amino acid replacement polymorphisms relative to D. simulans. Interestingly, range expansion from Africa appears to have had little effect on synonymous-to-replacement polymorphism ratios...
  77. pmc Linkage disequilibrium as a signature of selective sweeps
    Yuseob Kim
    Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York 14853, USA
    Genetics 167:1513-24. 2004
    ..However, the improvement made by including LD is rather small, suggesting that most of the relevant information regarding selective sweeps is captured by the spatial distribution and marginal allele frequencies of polymorphisms...
  78. ncbi Medicago truncatula EST-SSRs reveal cross-species genetic markers for Medicago spp
    I Eujayl
    The Samuel Roberts Noble Foundation, 2510 Sam Noble Parkway, Ardmore, OK 73401, USA
    Theor Appl Genet 108:414-22. 2004
    ..truncatula ESTs are valuable genetic markers for the Medicago genus. These markers will be useful in establishing the genomic relationships of M. truncatula to important forage legume crops such as alfalfa and other annual medics...
  79. pmc Genetic polymorphism and molecular epidemiology of Leishmania (Viannia) braziliensis from different hosts and geographic areas in Brazil
    Elisa Cupolillo
    Laboratório de Pesquisas em Leishmaniose Instituto Oswaldo Cruz, Rio de Janeiro, Brazil
    J Clin Microbiol 41:3126-32. 2003
    ..The genetic polymorphism observed demonstrates the degree of diversity of L. (V...
  80. ncbi Extensive genetic polymorphism in the human CYP2B6 gene with impact on expression and function in human liver
    T Lang
    Dr Margarete Fischer Bosch Institute of Clinical Pharmacology, Stuttgart, Germany
    Pharmacogenetics 11:399-415. 2001
    ..In this study, we present the first systematic investigation of genetic polymorphism in the CYP2B6 gene on chromosome 19...
  81. ncbi Genetic association studies
    Heather J Cordell
    University of Cambridge, Department of Medical Genetics, Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Addenbrookes Hospital, UK
    Lancet 366:1121-31. 2005
    ..As with other types of genetic epidemiological study, issues of design, statistical analysis, and interpretation are very important...
  82. ncbi Population structure and transmission dynamics of Plasmodium vivax in rural Amazonia
    Marcelo U Ferreira
    Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA
    J Infect Dis 195:1218-26. 2007
    ..We conclude that the small-area genetic diversity in P. vivax populations under low-level transmission is not severely constrained by the low rates of effective meiotic recombination, with clear public health implications...
  83. ncbi The effects of local selection, balanced polymorphism and background selection on equilibrium patterns of genetic diversity in subdivided populations
    B Charlesworth
    Department of Ecology and Evolution, University of Chicago, IL 60637, USA
    Genet Res 70:155-74. 1997
    ..We discuss how these theoretical results can be related to data on genetic diversity within and between local populations of a species...
  84. ncbi Cytochrome P450 gene polymorphism and cancer
    Jose A G Agundez
    Department of Pharmacology, Medical School, University of Extremadura, Avda de Elvas s n, E 06071, Badajoz, Spain
    Curr Drug Metab 5:211-24. 2004
    ..In addition, some recommendations on study design, in order to obtain more conclusive findings in further studies, are provided...
  85. 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...
  86. ncbi Alu repeats and human genomic diversity
    Mark A Batzer
    Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, 202 Life Sciences Building, Baton Rouge, Louisiana 70803, USA
    Nat Rev Genet 3:370-9. 2002
    ..Alu-insertion polymorphisms are a boon for the study of human population genetics and primate comparative genomics because they are neutral genetic markers of identical descent with known ancestral states...
  87. ncbi Large-scale copy number polymorphism in the human genome
    Jonathan Sebat
    Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
    Science 305:525-8. 2004
    ..We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease...
  88. ncbi KIR: diverse, rapidly evolving receptors of innate and adaptive immunity
    Carlos Vilches
    Servicio de Inmunologia, Hospital Universitario Clinica Puerta de Hierro, San Martin de Porres 4, 28035 Madrid, Spain
    Annu Rev Immunol 20:217-51. 2002
    ..This diversity likely contributes variability to the function of NK cells and T-lymphocytes by modulating innate and adaptive immune responses to specific challenges...
  89. ncbi Glutathione S-transferase polymorphisms and their biological consequences
    J D Hayes
    Biomedical Research Centre, Ninewells Hospital and Medical School, University of Dundee, UK
    Pharmacology 61:154-66. 2000
    ....
  90. pmc Living at the edge: biogeographic patterns of habitat segregation conform to speciation by niche expansion in Anopheles gambiae
    Carlo Costantini
    Institut de recherche pour le developpement IRD, UR016, and Institut de Recherche en Sciences de la Santé IRSS, Bobo Dioulasso, Burkina Faso
    BMC Ecol 9:16. 2009
    ..To elucidate the role that ecology and geography play in speciation, we carried out a countrywide analysis of An. gambiae M and S habitat requirements, and that of their chromosomal variants, across Burkina Faso...
  91. pmc Microsatellites as DNA markers in cultivated peanut (Arachis hypogaea L.)
    Guohao He
    Tuskegee University, Tuskegee, AL 36088, USA
    BMC Plant Biol 3:3. 2003
    ..Genomic research of cultivated peanut has lagged behind other crop species because of the paucity of polymorphic DNA markers found in this crop. It is necessary to identify additional DNA markers for further genetic research in peanut...
  92. pmc Heterogeneity in meta-analyses of genome-wide association investigations
    John P A Ioannidis
    Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina, Greece
    PLoS ONE 2:e841. 2007
    ..Between-study heterogeneity is important to document and may point to interesting leads...
  93. pmc An initial map of insertion and deletion (INDEL) variation in the human genome
    Ryan E Mills
    Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genome Res 16:1182-90. 2006
    ..All INDELs in this study have been deposited into dbSNP and have been integrated into maps of human genetic variation that are available to the research community...
  94. ncbi P. falciparum rosetting mediated by a parasite-variant erythrocyte membrane protein and complement-receptor 1
    J A Rowe
    Laboratory of Parasitic Diseases, NIAID, NIH, Bethesda, Maryland 20892, USA
    Nature 388:292-5. 1997
    ..Thus we describe a new adhesive function for PfEMP1 and raise the possibility that CR1 polymorphisms in Africans that influence the interaction between erythrocytes and PfEMP1 may protect against severe malaria...
  95. ncbi Mefloquine resistance in Plasmodium falciparum and increased pfmdr1 gene copy number
    Ric N Price
    Department of Cellular and Molecular Medicine Infectious Diseases, St George s Hospital Medical School, London, UK
    Lancet 364:438-47. 2004
    ..A combination of artesunate with mefloquine now cures more than 95% of acute infections. For both treatment regimens, the underlying mechanisms of resistance are not known...
  96. ncbi The impact of CYP2C9 and VKORC1 genetic polymorphism and patient characteristics upon warfarin dose requirements: proposal for a new dosing regimen
    Elizabeth A Sconce
    School of Clinical and Laboratory Sciences, University of Newcastle, Newcastle upon Tyne, United Kingdom
    Blood 106:2329-33. 2005
    ..Based upon the data, a new warfarin dosing regimen has been developed. The validity of the dosing regimen was confirmed in a second cohort of patients on warfarin therapy...
  97. ncbi Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of Novelty Seeking
    R P Ebstein
    Research Laboratory, S Herzog Memorial Hospital, Jerusalem, Israel
    Nat Genet 12:78-80. 1996
  98. ncbi The VNTR polymorphism of the human dopamine transporter (DAT1) gene affects gene expression
    S Fuke
    Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, Japan
    Pharmacogenomics J 1:152-6. 2001
    ..This suggests that VNTR polymorphism affects the expression of the dopamine transporter...
  99. ncbi Genomic deletions created upon LINE-1 retrotransposition
    Nicolas Gilbert
    Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Cell 110:315-25. 2002
    ..Thus, our data demonstrate multiple pathways for L1 integration in cultured cells, and show that L1 is not simply an insertional mutagen, but that its retrotransposition can result in significant deletions of genomic sequence...
  100. ncbi Modulation of paraoxonase (PON1) activity
    Lucio G Costa
    Department of Environmental and Occupational Health Sciences, University of Washington, 4225 Roosevelt Way NE, Suite 100, Seattle, WA 98105, USA
    Biochem Pharmacol 69:541-50. 2005
    ....
  101. ncbi The Avr1b locus of Phytophthora sojae encodes an elicitor and a regulator required for avirulence on soybean plants carrying resistance gene Rps1b
    Weixing Shan
    Virginia Bioinformatics Institute, Virginia Polytechnic Institute and State University, Blacksburg 24061, USA
    Mol Plant Microbe Interact 17:394-403. 2004
    ..Avr1b-2 was genetically mapped to the same BAC contig as Avr1b-1, using a cross between P7064 (race 7) and P6497. The Avr1k gene, required for avirulence on soybean cultivars containing Rps1k, was mapped to the same interval as Avr1b-1...

Research Grants70

  1. FUNCTIONAL CHARACTERIZATION OF AGT GENETIC POLYMORPHISM
    Jun yan Hong; Fiscal Year: 2001
    ..Recently, we have identified two novel forms of genetic polymorphism of human AGT. One missense alteration occurs at the codon 143 (isoleucine to valine)...
  2. MULTI-ANALYTE WAVEGUIDE IMMUNOSENSING
    JAMES HERRON; Fiscal Year: 2002
    ..Present-day methodology for assessing genetic polymorphism involves isolating genes from afflicted individuals using polymerase chain reaction (PCR), sequencing them, ..
  3. Genetic variation and regulatory networks: Mechanisms and complexity
    DANA PE ER; Fiscal Year: 2009
    ..These tools will be made publicly available, including a friendly graphical user interface and visualization. ..
  4. Variation in M. tuberculosis in response to host selection
    Sarah Fortune; Fiscal Year: 2009
    ..In these studies, we expect to provide fundamental insights into the mechanisms and targets of diversifying immune selection in M. tuberculosis. ..
  5. Effects of Testosterone and Genetic Factors on Psychological and Motor Function i
    NICOLE RENEE TARTAGLIA; Fiscal Year: 2013
    ....
  6. 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. ..
  7. Polycyclic aromatic hydrocarbons and birth outcomes in Mexico City
    MARIE SYLVIA O'NEILL; Fiscal Year: 2013
    ....
  8. VitC to Decrease Effects of Smoking in Pregnancy on Infant Lung Function-CCC-Lead
    CYNTHIA T MCEVOY; Fiscal Year: 2013
    ..End of Abstract) ..
  9. Regulation of Type 1 Interferon Production by Autoimmunity-Associated PTPN22
    Yaya Wang; Fiscal Year: 2013
    ..In this grant I wil study the function of a genetic variant associated with multiple autoimmune diseases, the PTPN22 1858T variant, to examine its role in immune responses and disease pathogenesis. ..
  10. FOLLOW UP OF THE ALPHA-TOCOPHEROL, BETA-CAROTENE CANCER PREVENTION (ATBC) STUDY
    Jarmo Virtamo; Fiscal Year: 2010
    ..We contribute scientific expertise, data and cohort resources, and intramural support to these powerful, high-impact studies. ..
  11. PROSPECTIVE STUDIES OF DIET AND CANCER IN MEN AND WOMEN
    Walter C Willett; Fiscal Year: 2010
    ..The findings will contribute importantly to the prevention and prognosis of major cancers of men and women. ..
  12. VitC to Decrease Effects of Smoking in Pregnancy on Infant Lung Function-DCC
    Cynthia D Morris; Fiscal Year: 2013
    ..This research has great public health significance to potentially alter the fetal origins of respiratory disease by blocking some of the effects of in-utero smoke exposure on lung development. ..
  13. A novel allele influencing HIV infection among injection drug users
    Xiao Fang Yu; Fiscal Year: 2012
    ..Investigation of host genetic polymorphism in an understudied population by established researchers who have had extensive experience in similar types ..
  14. Adherent Escherichia coli and associated virulence genes in children with IBD
    Sandra C Kim; Fiscal Year: 2010
    ..coli, the genetically susceptible individual's ability to process these organisms, and subsequent metabolic pathways involved in disease pathogenesis. ..
  15. Genes and Hormonal Fetal Antecedents to Sex Differencs in the Brain in Depression
    Jill M Goldstein; Fiscal Year: 2011
    ..An understanding of the fetal mechanisms associated with sex differences in MOD will have etiologic imolications and imoortance for the development of sex-specific treatments and prevention of MOD. ..
  16. Postpartum Depression: Role of Sleep &Genetic Risk in Postpartum Mood Disorders
    Katherine M Sharkey; Fiscal Year: 2013
    ....
  17. Serotonin, Autism, and investigating cell types for CNS disorders.
    Joseph D Dougherty; Fiscal Year: 2010
    ..The approach proposed here has the potential to provide those cellular targets for treatments. ..
  18. Neuroendocrine Contribution to Behavior &Cognition in the Female Lifespan
    C NEILL NEILL EPPERSON; Fiscal Year: 2013
    ..abstract_text> ..
  19. Pathogenesis of cognitive/neurologic deficits in central nervous system malaria
    Chandy C John; Fiscal Year: 2012
    ..The study therefore has the potential to lead to the prevention of brain injury in hundreds of thousands of children in sub-Saharan Africa. ..
  20. DNA methylation alterations in response to pesticides exposure
    Lifang Hou; Fiscal Year: 2010
    ..The results from this study will address a critical gap in our knowledge of pesticides and their ability to cause cancer. ..
  21. Developing a prediction model for vincristine-induced peripheral neuropathy
    Jamie L Renbarger; Fiscal Year: 2010
    ..Once the correlation between genetics and vincristine neurotoxicity fully elucidated, it will be possible to individualize vincristine dosing using genetic information to optimize therapeutic efficacy while minimizing toxicity. ..
  22. Genetic toxicology of purine metabolism
    Peter C Dedon; Fiscal Year: 2010
    ....
  23. A Fourth Outcome: DNA Damage and the Differentiation of B Cells
    Michael A Teitell; Fiscal Year: 2013
    ..of human B cell lymphoma samples by ATM or LKB1 repression or by a recently identified somatic mutation or genetic polymorphism in CRTC2...
  24. Does the extreme variability of methadone metabolism have an epigenetic cause?
    Gavin R Schnitzler; Fiscal Year: 2010
    ....
  25. Using a MALDI-TOF System for SNP Analysis
    Nadereh Jafari; Fiscal Year: 2010
    ....
  26. Environment, Novel Aging Outcomes, and Genetics
    Sung Kyun Park; Fiscal Year: 2013
    ....
  27. Host Genetic Epidemiology in HIV-1-Discordant African Couples and Other Cohorts
    Jianming Tang; Fiscal Year: 2012
    ....
  28. MIF in progression and treatment of ALD
    Laura E Nagy; Fiscal Year: 2013
    ....
  29. Impact of genetic variation on response to GO therapy in COG-AML clinical trials
    ROLAND BRUNO WALTER; Fiscal Year: 2013
    ..Moreover, this research will provide novel insights into the impact of genetic polymorphisms on efficacy of standard therapeutics with broad implications for the treatment of AML. ..
  30. Biological &Environmental Mediators of Vitamin D and Aggressive Prostate Cancer
    ADAM BRYANT MURPHY; Fiscal Year: 2013
    ....
  31. Biomarkers of NNK in prediction of lung cancer development in smokers
    Jian Min Yuan; Fiscal Year: 2013
    ..g., quitting smoking. In addition, chemopreventive agents, if available, could be prescribed to high-risk people for protection against lung cancer development. ..
  32. Obesity and Asthma: Genetics and Nutrigenetic Response to Omega-3 Fatty Acids
    Jason E Lang; Fiscal Year: 2013
    ..This project, through our ALA-ACRC affiliation, may be well positioned to transition into a large multicenter asthma trial. ..
  33. Molecular epidemiology of drug resistance and population genetic structure of Pla
    Fangli Lu; Fiscal Year: 2013
    ..vivax transmission in Yunnan and Hainan, China. 1 ..
  34. Role of cytochrome P4501B1 in oxygen-mediated pulmonary injury
    Bhagavatula Moorthy; Fiscal Year: 2013
    ..This project is aimed at developing novel strategies for the prevention/treatment of lung diseases such as BPD and ARDS in humans. ..
  35. Ozone Cardiovascular Effects in Genetically Susceptible People
    MARK WALTER FRAMPTON; Fiscal Year: 2012
    ..Understanding the effects of ozone on the heart and circulation can help establish appropriate air pollution standards, and provide strategies to protect the most susceptible people. ..
  36. Epidemiologic Study of Hepatocellular Carcinoma in the US
    Herbert Yu; Fiscal Year: 2013
    ....
  37. PHAHs and Thyroid Cancer Risk in DoDSR Cohort
    Yawei Zhang; Fiscal Year: 2013
    ....
  38. Function and regulation of OATP1B1 and OATP1B3
    Wei Yue; Fiscal Year: 2013
    ..The outcomes of these experiments will greatly broaden our ability to predict and prevent transport-mediated drug-drug interactions. ..
  39. Genetic Susceptibility Factors in the Etiology of Neuroblastoma
    Andrew Olshan; Fiscal Year: 2012
    ..The determination of preventive factors for neuroblastoma is also broadly relevant as vitamins have been associated with a reduced risk of other childhood cancers. ..
  40. Definition of an Ancient T cell-like System in Lampreys
    MAX DALE COOPER; Fiscal Year: 2013
    ..Candidate histocompatibility genes will be examined for genetic polymorphism, expression patterns and immunostimulatory potential.
  41. Ethnic Differences in Survival after Childhood ALL
    Smita Bhatia; Fiscal Year: 2009
    ..abstract_text> ..
  42. CRTC2 in Cellular Development, Function, and Neoplasia
    Michael A Teitell; Fiscal Year: 2013
    ..of human B cell lymphomas by ATM or LKB1 repression, or by a recently identified somatic mutation or genetic polymorphism in CRTC2...
  43. Epidemiologic Studies of Type 2 Diabetes in Normal Weight Adults
    MERCEDES RENEE CARNETHON; Fiscal Year: 2010
    ..Findings from this study extend beyond the small proportion of normal weight persons with T2DM to provide a better understanding of risk factors other than overweight for T2DM and the cardiovascular consequences of T2DM. ..
  44. Characterization of the Mechanisms Responsible for Sex Based Outcome Difference F
    JASON LEE SPERRY; Fiscal Year: 2013
    ..The goal of this study is to determine if the early sex hormone environment soon after injury and X-chromosome genetic polymorphisms are responsible for these sex based outcome differences following injury. ..
  45. ESTABLISHMENT OF RESEARCH RESOURCEFOR THE IDENTIFICATION OF GENETIC AND ENVIRONM
    VAINORIOUS E; Fiscal Year: 2009
    ....
  46. Predictors of Treatment Response Relapse and Recurrence in Major Depression
    W Edward Craighead; Fiscal Year: 2012
    ....
  47. Medications Development for the Pregnant Opiate Addict
    Mahmoud S Ahmed; Fiscal Year: 2010
    ..The focus of this proposal is to investigate the effect of genetic polymorphism and metabolic allosteric substrates on the activity of CYP19 and P-gp as well as the role of the efflux ..
  48. The Effects of Iron Status on FGF23 Metabolism and Bone Health.
    Michael J Econs; Fiscal Year: 2012
    ....
  49. Immune and genetic determinants of murine glomerulonephritis
    Elahna Paul; Fiscal Year: 2012
    ..abstract_text> ..
  50. THAPCA Trials - DCC Application
    JONATHAN MICHAEL DEAN; Fiscal Year: 2013
    ..The THAPCA Trials are studies that will determine whether whole body cooling of children who have had cardiac arrest will result in better survival and less brain injury. ..
  51. THAPCA Trials - Scientific Application
    Frank W Moler; Fiscal Year: 2012
    ..The THAPCA Trials are studies that will determine whether whole body cooling of children who have had cardiac arrest will result in better survival and less brain injury. ..
  52. PSYCHOPHYSIOLOGY OF IRRITABLE BOWEL SYNDROME
    William E Whitehead; Fiscal Year: 2012
    ..Identifying these different phenotypes of IBS and the genetic markers associated with them may help to identify new targets for drug development and may help us to individualize treatment and thereby make it more successful. ..
  53. Suppressors of cytokine signaling (SOCS) in HAART-treated HIV infection
    Maria C Villacres; Fiscal Year: 2010
    ..As the number of HIV-infected women increase, especially among African-American and Latino minorities, it is highly relevant to understand the reasons for disease progression despite efficient anti-viral treatment. ..
  54. Pharmacogenetics of Ara-C Metabolic Pathway
    Jatinder K Lamba; Fiscal Year: 2012
    ..The proposed research seeks to explain this variability by studying the inherited genetic variation in key genes involved in ara-C metabolism and may, in future, help to optimize ara-C dosing based on patient genetics. ..
  55. Relation of Consummatory and Anticipatory Food Reward to Obesity
    Sonja Yokum; Fiscal Year: 2013
    ..An improved understanding of the neural substrates that contribute to obesity should inform the development of more effective prevention and treatment interventions for this pernicious medical condition. ..
  56. ALL therapy and developing brains: MRI measures, genetic factors and cognition
    Wilburn E Reddick; Fiscal Year: 2013
    ....
  57. ATYPICAL ODONTALGIA AND ENDODONTIC TREATMENT, SENSORY TESTING AND GENETIC STUDY
    Eli Eliav; Fiscal Year: 2010
    ..Three types of patients will be evaluated using QST, a pain and risk factor questionnaire and genetic polymorphism assays: patients suffering from persistent oral deafferentation pain following previous root canal ..
  58. Genetic and Environmental Risk Factors for Venous Thromboembolism
    Christopher Kabrhel; Fiscal Year: 2013
    ..Our analyses will result in identification of novel common genetic loci for VTE. Given the high population prevalence of risk factors and the high mortality of VTE, the potential public health impact of this work is large. ..
  59. Vitamin D status, Gene Polymorphism and Breast Cancer Progression/Prognosis
    Xiao Ou Shu; Fiscal Year: 2012
    ..In addition, the research could help determine if chemoprevention clinical trials with vitamin D should be considered for BC patients at high-risk for disease progression. ..
  60. 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. ..
  61. Chemical markers of heterocyclic aromatic amines for human biomonitoring
    Robert J Turesky; Fiscal Year: 2011
    ..However, the reported associations of dietary factors and genetic polymorphism data can not confirm the relationships between specific chemical exposures and carcinogenesis...
  62. PHARMACOKINETICS AND PHARMACODYNAMICS OF NICOTINE
    Neal L Benowitz; Fiscal Year: 2012
    ..An ultimate objective is to use this knowledge to aid in the development of more effective smoking cessation interventions for African-Americans. ..
  63. Oxytocin Receptors and Social Behavior
    Larry J Young; Fiscal Year: 2013
    ..This work will inform future development of novel therapeutic strategies to enhance social function in ASD and other psychiatric disorders. ..
  64. Developmental effects of 5-HTT genotype on stress reactivity and brain function
    Moriah E Thomason; Fiscal Year: 2010
    ....
  65. Genetic polymorphism and diversity of Plasmodium vivax malaria
    Dyann Wirth; Fiscal Year: 2009
    ....
  66. GLUTATHIONE TRANSFERASES IN HUMANS: DIETARY INFLUENCES
    Johanna Lampe; Fiscal Year: 2006
    ..abstract_text> ..
  67. POLYMORPHISMS IN PG/COX PATHWAY AND COLORECTAL POLYPS
    Cornelia Ulrich; Fiscal Year: 2003
    ..Finally, we plan to develop a model for integrating information on genetic variability at multiple points in this metabolic pathway. ..
  68. EPIDEMIOLOGY OF INFANT LEUKEMIA
    Julie Ross; Fiscal Year: 2007
    ..This study will utilize the unique resources available through the Children's Oncology Group, and include ascertainment of cases over a four-year period (Jan 1, 2003-Dec 31, 2006). ..
  69. Population-Specific Genetic Determinants of Susceptibility to Chemotherapies
    PETER HUGH O apos DONNELL; Fiscal Year: 2009
    ..For the trainee, the proposal represents a comprehensive learning experience in both basic pharmacogenetic discovery and clinical trial design. ..
  70. Genes, Hormones & Environment in an Ovarian Cancer Model
    Daniel Cramer; Fiscal Year: 2007
    ..Our continued goal is to identify modifiable risk factors and chemo preventive agents for a common and lethal cancer in women. ..