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 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
  2. 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
  3. 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
  4. 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
  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. 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
  7. 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
  8. 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
  9. 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
  10. 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

Detail Information

Publications326 found, 100 shown here

  1. 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
    ....
  2. 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...
  3. 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...
  4. 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
    ....
  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. 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...
  7. 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
    ....
  8. 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...
  9. 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...
  10. 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...
  11. 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 ..
  12. 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...
  13. 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...
  14. 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...
  15. 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
    ....
  16. 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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/...
  21. 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
    ....
  22. 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...
  23. 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%)...
  24. 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
    ....
  25. 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
    ....
  26. 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...
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. 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
    ....
  32. 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...
  33. 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...
  34. 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
    ....
  35. 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...
  36. 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...
  37. 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...
  38. 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...
  39. 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...
  40. 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...
  41. 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...
  42. 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
    ....
  43. 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...
  44. 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
    ....
  45. 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...
  46. 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...
  47. 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...
  48. 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...
  49. 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...
  50. 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...
  51. 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
    ....
  52. 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...
  53. 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...
  54. 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...
  55. 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...
  56. 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...
  57. 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...
  58. 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...
  59. 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...
  60. 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...
  61. 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...
  62. 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
  63. 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
    ....
  64. ncbi A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor
    D A Mason
    Departments of Medicine and Pharmacology, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267, USA
    J Biol Chem 274:12670-4. 1999
    ..The genetic variation of beta1AR at this locus may be the basis of interindividual differences in pathophysiologic characteristics or in the response to therapeutic betaAR agonists and antagonists in cardiovascular and other diseases...
  65. 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...
  66. ncbi Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties
    S A Green
    Department of Medicine Pulmonary, University of Cincinnati Medical Center, Ohio 45267 0564
    Biochemistry 33:9414-9. 1994
    ..abstract truncated at 250 words)..
  67. 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...
  68. pmc Characterization of six human disease-associated inversion polymorphisms
    Francesca Antonacci
    Department of Genome Sciences, Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA
    Hum Mol Genet 18:2555-66. 2009
    ..In these cases, discovery and genotyping methods based on SNPs may be confounded and molecular cytogenetics remains the only method to genotype these inversions...
  69. pmc Isolation and characterization of novel microsatellite markers and their application for diversity assessment in cultivated groundnut (Arachis hypogaea)
    Luu M Cuc
    International Crop Research Institute for Semi Arid Tropics, Patancheru 502 324, Greater Hyderabad, Andhra Pradesh, India
    BMC Plant Biol 8:55. 2008
    ..The low level of polymorphism in cultivated germplasm, however, warrants a need of larger number of polymorphic microsatellite markers for cultivated groundnut...
  70. ncbi Clinical significance of the cytochrome P450 2C19 genetic polymorphism
    Zeruesenay Desta
    Division of Clinical Pharmacology, Indiana University School of Medicine, Wishard Hospital, Indianapolis 46202, USA
    Clin Pharmacokinet 41:913-58. 2002
    ..Finally, many studies have attempted to identify relationships between CYP2C19 genotype and phenotype and susceptibility to xenobiotic-induced disease, but none of these are compelling...
  71. 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...
  72. pmc NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses
    Montserrat Garcia-Closas
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Bethesda, MD 20852 7234, USA
    Lancet 366:649-59. 2005
    ..Associations between polymorphisms in other NAT and GST genes and bladder-cancer risk have been inconsistent...
  73. ncbi Human toll-like receptor 4 mutations but not CD14 polymorphisms are associated with an increased risk of gram-negative infections
    Doreen M Agnese
    Division of Surgical Sciences, Department of Surgery, University of Medicine and Dentistry New Jersey Robert Wood Johnson Medical School, New Brunswick, New Jersey 08903, USA
    J Infect Dis 186:1522-5. 2002
    ..These findings indicate that hTLR4 mutations are associated with an increased incidence of gram-negative infections in critically ill patients in a surgical setting...
  74. 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...
  75. pmc Molecular origins of rapid and continuous morphological evolution
    John W Fondon
    Eugene McDermott Center for Human Growth and Development and Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, TX 75390 8591, USA
    Proc Natl Acad Sci U S A 101:18058-63. 2004
    ..The high frequency and incremental effects of repeat length mutations provide molecular explanations for swift, yet topologically conservative morphological evolution...
  76. ncbi Dominant influence of HLA-B in mediating the potential co-evolution of HIV and HLA
    Photini Kiepiela
    HIV Pathogenesis Programme, The Doris Duke Medical Research Institute, University of KwaZuluNatal, 719 Umbilo Road, Durban 4015, South Africa
    Nature 432:769-75. 2004
    ..The dominant involvement of HLA-B in influencing HIV disease outcome is of specific relevance to the direction of HIV research and to vaccine design...
  77. 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...
  78. ncbi Molecular marker systems in insects: current trends and future avenues
    Susanta K Behura
    Department of Entomology, 505 S Goodwin Avenue, University of Illinois at Urbana Champaign, Urbana, Illinois 61801, USA
    Mol Ecol 15:3087-113. 2006
    ....
  79. pmc A new approach to estimate parameters of speciation models with application to apes
    Celine Becquet
    Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Genome Res 17:1505-19. 2007
    ..Similarly, Eastern and Western gorillas and Sumatran and Bornean orangutans appear to have experienced gene flow since their splits approximately 90 and over 250 Kya, respectively...
  80. ncbi Assessing publication bias in genetic association studies: evidence from a recent meta-analysis
    Marcus R Munafo
    Department of Clinical Pharmacology, Cancer Research UK, General Practice Research Group, University of Oxford, Oxford OX2 6HE, UK
    Psychiatry Res 129:39-44. 2004
    ....
  81. pmc Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?
    E Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 95:8170-4. 1998
    ....
  82. pmc Genetic diversity of peanut (Arachis hypogaea L.) and its wild relatives based on the analysis of hypervariable regions of the genome
    Marcio de Carvalho Moretzsohn
    EMBRAPA Recursos Geneticos e Biotecnologia, C P 02372, 70 770 900, Brasilia DF, Brazil
    BMC Plant Biol 4:11. 2004
    ..Here we report the use of a set of microsatellite markers, including newly developed ones, for phylogenetic inferences and the analysis of genetic variation of accessions of A. hypogea and its wild relatives...
  83. ncbi Genetic polymorphisms of interleukin (IL)-1B, IL-1RN, IL-8, IL-10 and tumor necrosis factor {alpha} and risk of gastric cancer in a Chinese population
    Wanli Lu
    Department of Cancer Epidemiology, Peking University School of Oncology, Beijing Institute for Cancer Research, Beijing Cancer Hospital, Beijing 100036, People s Republic of China
    Carcinogenesis 26:631-6. 2005
    ..These findings suggest that genetic polymorphisms in IL-8, IL-10 and TNFalpha may play important roles in developing gastric cancer in the Chinese population...
  84. ncbi Apolipoprotein E: cholesterol transport protein with expanding role in cell biology
    R W Mahley
    Gladstone Foundation Laboratories for Cardiovascular Disease, University of California, San Francisco 94140 0608
    Science 240:622-30. 1988
    ..Other functions of apolipoprotein E, unrelated to lipid transport, are becoming known, including immunoregulation and modulation of cell growth and differentiation...
  85. ncbi Role of genotype in the cycle of violence in maltreated children
    Avshalom Caspi
    Medical Research Council Social, Genetic, and Developmental Psychiatry Research Centre, Institute of Psychiatry, King s College, London SE5 8AF, UK
    Science 297:851-4. 2002
    ..These findings may partly explain why not all victims of maltreatment grow up to victimize others, and they provide epidemiological evidence that genotypes can moderate children's sensitivity to environmental insults...
  86. pmc Estimating diversifying selection and functional constraint in the presence of recombination
    Daniel J Wilson
    Department of Statistics, University of Oxford, Oxford OX1 3TG, United Kingdom
    Genetics 172:1411-25. 2006
    ..We use the method to analyze the porB gene of Neisseria meningitidis and verify the inferences using prior sensitivity analysis and model criticism techniques...
  87. pmc Molecular typing of IberoAmerican Cryptococcus neoformans isolates
    Wieland Meyer
    University of Sydney, Sydney, Australia
    Emerg Infect Dis 9:189-95. 2003
    ..8% (n=6), VNIV (var. neoformans, serotype D); 3.5% (n=12), VGI; 6.2% (n=21), VGII; 9.1% (n=31), VGIII, and 1.5% (n=5) VGIV, with all four VG types containing var. gatii serotypes B and C isolates...
  88. pmc Effect of genetic variation in the organic cation transporter 1 (OCT1) on metformin action
    Yan Shu
    Department of Biopharmaceutical Sciences, University of California San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
    J Clin Invest 117:1422-31. 2007
    ..Collectively, the data indicate that OCT1 is important for metformin therapeutic action and that genetic variation in OCT1 may contribute to variation in response to the drug...
  89. ncbi Polymorphic variants of insulin-like growth factor I (IGF-I) receptor and phosphoinositide 3-kinase genes affect IGF-I plasma levels and human longevity: cues for an evolutionarily conserved mechanism of life span control
    Massimiliano Bonafe
    Department of Experimental Pathology, University of Bologna, 40126 Bologna, Italy
    J Clin Endocrinol Metab 88:3299-304. 2003
    ....
  90. 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...
  91. ncbi MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis
    Mariska Klerk
    Division of Human Nutrition and Epidemiology, Wageningen University, PO Box 8129, 6700 EV Wageningen, The Netherlands
    JAMA 288:2023-31. 2002
    ..The MTHFR 677C-->T polymorphism is a genetic alteration in an enzyme involved in folate metabolism that causes elevated homocysteine concentrations, but its relevance to risk of CHD is uncertain...
  92. pmc Prevalent connexin 26 gene (GJB2) mutations in Japanese
    S Abe
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, 5 Zaifu cho, Hirosaki 036 8562, Japan
    J Med Genet 37:41-3. 2000
    ..Surprisingly, the 35delG mutation, which is the most common GJB2 mutation in white subjects, was not found in the present study. Our data indicated that specific combinations of GJB2 mutation exist in different populations...
  93. pmc Country-wide assessment of the genetic polymorphism in Plasmodium falciparum and Plasmodium vivax antigens detected with rapid diagnostic tests for malaria
    Natacha Mariette
    Malaria Research Unit, Institut Pasteur de Madagascar, Antananarivo, Madagascar
    Malar J 7:219. 2008
    ..This factor has been studied by comparisons between countries at continental level, but little information is available concerning antigen variability within a given country...
  94. pmc Detecting polymorphic regions in Arabidopsis thaliana with resequencing microarrays
    Georg Zeller
    Friedrich Miescher Laboratory of the Max Planck Society, Tübingen 72070, Germany
    Genome Res 18:918-29. 2008
    ..thaliana, and our method is applicable to similar data sets in other species. More broadly, our computational approach can be applied to other segmentation tasks related to the analysis of genomic variation...
  95. ncbi Apolipoprotein E: far more than a lipid transport protein
    R W Mahley
    Gladstone Institute of Cardiovascular Disease, University of California at San Francisco, San Francisco, California 94141 9100, USA
    Annu Rev Genomics Hum Genet 1:507-37. 2000
    ..Functional differences in the apoE isoforms that affect (or did affect) survival before the reproductive years probably account, at least in part, for the allele frequencies of the present day...
  96. doi The amphioxus genome and the evolution of the chordate karyotype
    Nicholas H Putnam
    Department of Energy Joint Genome Institute, Walnut Creek, California 94598, USA
    Nature 453:1064-71. 2008
    ..These genome-scale events shaped the vertebrate genome and provided additional genetic variation for exploitation during vertebrate evolution...
  97. 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...
  98. ncbi Folate intake, MTHFR polymorphisms, and risk of esophageal, gastric, and pancreatic cancer: a meta-analysis
    Susanna C Larsson
    Division of Nutritional Epidemiology, National Institute of Environmental Medicine, Karolinska Institutet, SE 171 77 Stockholm, Sweden
    Gastroenterology 131:1271-83. 2006
    ....
  99. 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
    ....
  100. ncbi Seven haemostatic gene polymorphisms in coronary disease: meta-analysis of 66,155 cases and 91,307 controls
    Zheng Ye
    Department of Public Health and Primary Care, University of Cambridge, Strangeways Site, Wort s Causeway, Cambridge CB1 8RN, UK
    Lancet 367:651-8. 2006
    ..We did meta-analyses on seven such haemostatic genetic variants for which the available evidence on each comprises at least 5000 coronary disease cases and at least 5000 controls...
  101. ncbi Allelic discrimination using fluorogenic probes and the 5' nuclease assay
    K J Livak
    PE Applied Biosystems, Foster City, CA 94404, USA
    Genet Anal 14:143-9. 1999
    ..Furthermore, a standard method of analysis has been developed that enables automated genotype determination. Applications of this assay have included typing a number of polymorphisms in human drug metabolism genes...

Research Grants83

  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. Pharmacogenetics of Ara-C Metabolic Pathway
    Jatinder K Lamba; Fiscal Year: 2010
    ..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. ..
  4. Polycyclic aromatic hydrocarbons and birth outcomes in Mexico City
    MARIE O NEILL; Fiscal Year: 2009
    ....
  5. Influence of Genetics and Air Pollution Exposures on Birth Outcomes
    Kathleen Mortimer; Fiscal Year: 2007
    ..Study designs that allow for cost-efficient participant recruitment and sample collection would guide future cohort studies of children's environmental health. ..
  6. Predicting Placebo Responses Across Disease States
    Jon Kar Zubieta; Fiscal Year: 2010
    ..The proposed studies benefit from unique features of the scientific environment, subject populations, or employ useful collaborative arrangements. There is evidence of institutional support. ..
  7. RENIN/ANGIOTENSIN SYSTEM AND FIBRINOLYSIS IN HUMANS
    Douglas Vaughan; Fiscal Year: 2001
    ....
  8. Pharmacogenetics of Ara-C Metabolic Pathway
    Jatinder Lamba; Fiscal Year: 2009
    ..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. ..
  9. Pharmacogenetics of Ara-C Metabolic Pathway
    Jatinder Lamba; Fiscal Year: 2009
    ..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. ..
  10. The Odd-Even Effect of Polymorphic CA repeats in the 5' Regulatory Region of the
    IVAN GORLOV; Fiscal Year: 2007
    ..The results obtained in this study will improve our understanding of how genetic polymorphisms in this key gene modulate breast cancer risk. ..
  11. Biomarkers of NNK in prediction of lung cancer development in smokers
    Jian Min Yuan; Fiscal Year: 2010
    ..The findings of the proposed study will have great influence on lung cancer incidence and mortality. ..
  12. Biomarkers of NNK in prediction of lung cancer development in smokers
    Jian Min Yuan; Fiscal Year: 2009
    ..The findings of the proposed study will have great influence on lung cancer incidence and mortality. ..
  13. Host Genetic Epidemiology in HIV-1-Discordant African Couples and Other Cohorts
    RICHARD ALAN KASLOW; Fiscal Year: 2010
    ....
  14. Diet, DNA Repair Genes and Breast Cancer Risk
    ARCHANA MCELIGOT; Fiscal Year: 2007
    ..Additionally, the findings of this study will provide directions for future epigenetic investigations, and targeted cancer prevention strategies. ..
  15. Longitudinal Population-Based Study of Vulvodynia
    Barbara D Reed; Fiscal Year: 2010
    ....
  16. GLUTATHIONE TRANSFERASES IN HUMANS: DIETARY INFLUENCES
    Johanna Lampe; Fiscal Year: 2006
    ..abstract_text> ..
  17. Host Genetic Epidemiology in HIV-1-Discordant African Couples and Other Cohorts
    RICHARD ALAN KASLOW; Fiscal Year: 2010
    ....
  18. HUMAN REQUIREMENTS FOR THE NUTRIENT CHOLINE
    Steven Zeisel; Fiscal Year: 2009
    ....
  19. HUMAN REQUIREMENTS FOR THE NUTRIENT CHOLINE
    Steven Zeisel; Fiscal Year: 2009
    ....
  20. Field Studies of Human Immunity to Amebiasis in Bangladesh
    William A Petri; Fiscal Year: 2010
    ..Successful completion of these studies will provide an estimate of the impact of amebiasis on the health of the study children, and could lead to new approaches to prevent and treat this disease. ..
  21. Field Studies of Human Immunity to Amebiasis in Bangladesh
    William Petri; Fiscal Year: 2009
    ..Successful completion of these studies will provide an estimate of the impact of amebiasis on the health of the study children, and could lead to new approaches to prevent and treat this disease. ..
  22. Molecular evolution of odorant receptor specificities in Drosophila
    STEPHANIE ROLLMANN; Fiscal Year: 2009
    ..The proposed research addresses this question by dissecting the underlying genetic architecture of olfactory behavior and examining the mechanism(s) by which variation in candidate behavioral loci shape behavioral variation. ..
  23. 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. ..
  24. 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). ..
  25. HUMAN REQUIREMENTS FOR THE NUTRIENT CHOLINE
    Steven Zeisel; Fiscal Year: 2007
    ..abstract_text> ..
  26. 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. ..