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 Genetic polymorphism in long-lived people: cues for the presence of an insulin/IGF-pathway-dependent network affecting human longevity
    Massimiliano Bonafe
    Center for Applied Biomedical Research, CRBA, St Orsola Malpighi University Hospital, Italy
    Mol Cell Endocrinol 299:118-23. 2009
  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 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
  4. ncbi 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
  5. ncbi 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
  6. 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
  7. 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
  8. ncbi 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. ncbi 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
  10. ncbi Mycobacterium tuberculosis complex genetic diversity: mining the fourth international spoligotyping database (SpolDB4) for classification, population genetics and epidemiology
    Karine Brudey
    , Institut Pasteur de Guadeloupe, Guadeloupe
    BMC Microbiol 6:23. 2006

Detail Information

Publications288 found, 100 shown here

  1. ncbi Genetic polymorphism in long-lived people: cues for the presence of an insulin/IGF-pathway-dependent network affecting human longevity
    Massimiliano Bonafe
    Center for Applied Biomedical Research, CRBA, St Orsola Malpighi University Hospital, Italy
    Mol Cell Endocrinol 299:118-23. 2009
    ..The data reported support the notion that the insulin/IGF-1 pathway drives an evolutionarily conserved network that regulates lifespan and affects longevity across species...
  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 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
    ....
  4. ncbi 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...
  5. ncbi 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...
  6. 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...
  7. 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...
  8. ncbi 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. ncbi 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...
  10. ncbi Mycobacterium tuberculosis complex genetic diversity: mining the fourth international spoligotyping database (SpolDB4) for classification, population genetics and epidemiology
    Karine Brudey
    , Institut Pasteur de Guadeloupe, Guadeloupe
    BMC Microbiol 6:23. 2006
    ..The building and mining of extended MTC polymorphic genetic databases is in progress...
  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 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
    ....
  13. ncbi 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
    ....
  14. 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
    ....
  15. 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
    ....
  16. 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
    ....
  17. 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...
  18. 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
    ..SUPPLEMENTARY INFORMATION: All supplementary information can be found at http://phg.mc.vanderbilt.edu/Software/MDR...
  19. ncbi 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. 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...
  21. ncbi 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
    ....
  22. 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...
  23. 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
    ....
  24. 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...
  25. ncbi 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...
  26. ncbi 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...
  27. ncbi 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
    ....
  28. ncbi 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...
  29. 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)..
  30. 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...
  31. 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...
  32. 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
    ....
  33. 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...
  34. ncbi 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...
  35. 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...
  36. 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...
  37. 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
    ....
  38. 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...
  39. 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
    ....
  40. ncbi 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...
  41. 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...
  42. 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...
  43. ncbi 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...
  44. ncbi 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...
  45. 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...
  46. 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
    ....
  47. ncbi 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...
  48. 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...
  49. ncbi 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...
  50. ncbi 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...
  51. ncbi 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...
  52. 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...
  53. 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...
  54. ncbi 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...
  55. 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...
  56. 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
    ....
  57. 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...
  58. 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
    ....
  59. ncbi Bovine prion protein gene (PRNP) promoter polymorphisms modulate PRNP expression and may be responsible for differences in bovine spongiform encephalopathy susceptibility
    Petra Sander
    Institute for Animal Breeding and Genetics, University of Veterinary Medicine, Hannover, Germany
    J Biol Chem 280:37408-14. 2005
    ..The in vivo data revealed substantial individual variation of PRNP expression in different tissues. In intestinal lymph nodes, expression levels differed between the different PRNP genotypes...
  60. ncbi 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...
  61. ncbi Genetic biodiversity of Mycobacterium tuberculosis complex strains from patients with pulmonary tuberculosis in Cameroon
    Sara Ngo Niobe-Eyangoh
    , Centre Pasteur, Yaound, Cameroon
    J Clin Microbiol 41:2547-53. 2003
    ....
  62. 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...
  63. ncbi 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
    ....
  64. ncbi Evidence for globally shared, cross-reacting polymorphic epitopes in the pregnancy-associated malaria vaccine candidate VAR2CSA
    Marion Avril
    Seattle Biomedical Research Institute, 307 Westlake Ave N, Suite 500, Seattle, WA 98109 5219, USA
    Infect Immun 76:1791-800. 2008
    ..This study demonstrates that VAR2CSA contains common polymorphic epitopes that are shared between geographically diverse CSA-binding lines...
  65. 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...
  66. ncbi Ethnic-specific genetic associations with pulmonary tuberculosis
    Julio C Delgado
    Center for Blood Research and Departments of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    J Infect Dis 186:1463-8. 2002
    ....
  67. ncbi Homocysteine and stroke: evidence on a causal link from mendelian randomisation
    Juan P Casas
    Centre for Clinical Pharmacology, Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College Medical School, University College London, Rayne Building, 5 University Street, London WC1E 6 JJ, UK
    Lancet 365:224-32. 2005
    ....
  68. 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
    ....
  69. ncbi Oral cancer and genetic polymorphism of DNA double strand break gene Ku70 in Taiwan
    Da Tian Bau
    Terry Fox Cancer Research Laboratory, Department of Medical Research, China Medical University Hospital, 2 Yuh Der Road, Taichung 404, Taiwan
    Oral Oncol 44:1047-51. 2008
    ..This polymorphism may be a novel useful marker for primary prevention and anticancer intervention...
  70. ncbi A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status
    Simonetta Friso
    Vitamin Metabolism Laboratory, Jean Mayer U S Department of Agriculture Human Nutrition Research on Aging at Tufts University, 711 Washington Street, Boston, MA 02111, USA
    Proc Natl Acad Sci U S A 99:5606-11. 2002
    ..03) that is known to be solely represented in those individuals. These results indicate that the MTHFR C677T polymorphism influences DNA methylation status through an interaction with folate status...
  71. ncbi The impact of catechol-O-methyltransferase and dopamine D4 receptor genotypes on neurophysiological markers of performance monitoring
    Ulrike M Krämer
    Department of Neuropsychology, Otto von Guericke University, 39106 Magdeburg, Germany
    J Neurosci 27:14190-8. 2007
    ....
  72. ncbi APOA5-1131T>C polymorphism is associated with triglyceride levels in Chinese men
    L Baum
    Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Shatin, Hong Kong, China
    Clin Genet 63:377-9. 2003
    ..The C allele is more common in Chinese than in Caucasians (26-40% vs. 8% of alleles), suggesting that the impact of this polymorphism on triglyceride levels in the population and therefore on public health is greater among Chinese...
  73. ncbi Hitchhiking mapping: a population-based fine-mapping strategy for adaptive mutations in Drosophilamelanogaster
    Bettina Harr
    Institut fur Tierzucht und Genetik, Veterinarmedizinische Universitat, Veterinarplatz 1, 1210 Vienna, Austria
    Proc Natl Acad Sci U S A 99:12949-54. 2002
    ..Our study suggests that hitchhiking mapping is a universal approach for the identification of ecologically important mutations...
  74. ncbi LEPR gene polymorphisms: associations with overweight, fat mass and response to diet in women
    O Mammes
    Xavier Bichat Medicine School, Paris, France
    Eur J Clin Invest 31:398-404. 2001
    ..However, obesity in humans results from interactions between genes and environment, mainly nutritional factors. Variations at the LEPR locus could be involved in the regulation of body weight...
  75. ncbi The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction
    S Kruse
    University Children s Hospital, University of Freiburg, Freiburg, Germany
    Immunology 96:365-71. 1999
    ..This could explain the observed association effects with lowered total IgE concentrations...
  76. ncbi The catechol-O-methyltransferase polymorphism: relations to the tonic-phasic dopamine hypothesis and neuropsychiatric phenotypes
    Robert M Bilder
    Department of Psychiatry, David Geffen School of Medicine and Psychology, UCLA Neuropsychiatric Institute, University of California at Los Angeles, Los Angeles, CA, USA
    Neuropsychopharmacology 29:1943-61. 2004
    ....
  77. ncbi hOGG1 Ser326Cys polymorphism and lung cancer susceptibility
    H Sugimura
    Department of Pathology, Hamamatsu University School of Medicine, Japan
    Cancer Epidemiol Biomarkers Prev 8:669-74. 1999
    ..Further studies are needed to assess the importance of the interpopulation variation to cancer susceptibility...
  78. ncbi Ser326Cys polymorphism in hOGG1 gene and risk of esophageal cancer in a Chinese population
    D Y Xing
    Department of Etiology and Carcinogenesis, Cancer Institute, Chinese Academy of Medical Sciences, Beijing 100021, China
    Int J Cancer 95:140-3. 2001
    ..The association between this genetic polymorphism and risk of the cancer was examined by a multivariate analysis...
  79. ncbi Increased throughput for fragment analysis on an ABI PRISM 377 automated sequencer using a membrane comb and STRand software
    R J Toonen
    Section of Evolution and Ecology, University of California, Davis 95616, USA
    Biotechniques 31:1320-4. 2001
    ....
  80. ncbi Chemokine receptors as HIV-1 coreceptors: roles in viral entry, tropism, and disease
    E A Berger
    Laboratory of Viral Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Annu Rev Immunol 17:657-700. 1999
    ..Beyond providing new perspectives on fundamental aspects of HIV-1 transmission and pathogenesis, the coreceptors suggest new avenues for developing novel therapeutic and preventative strategies to combat the AIDS epidemic...
  81. ncbi Genetic modifiers of lung disease in cystic fibrosis
    Mitchell L Drumm
    Department of Pediatrics, Case Western Reserve University, Cleveland, USA
    N Engl J Med 353:1443-53. 2005
    ..Polymorphisms in genes other than the cystic fibrosis transmembrane conductance regulator (CFTR) gene may modify the severity of pulmonary disease in patients with cystic fibrosis...
  82. ncbi Simultaneous genotyping of four functional loci of human SLC6A4, with a reappraisal of 5-HTTLPR and rs25531
    J R Wendland
    Mol Psychiatry 11:224-6. 2006
  83. 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
  84. ncbi Haplotypes of IL-10 promoter variants are associated with susceptibility to severe malarial anemia and functional changes in IL-10 production
    Collins Ouma
    Centre for Global Health Research, Kenya Medical Research Institute, University of New Mexico KEMRI Laboratories of Parasitic and Viral Diseases, Kisumu, Kenya
    Hum Genet 124:515-24. 2008
    ..006). Results presented here demonstrate that common IL-10 promoter haplotypes condition susceptibility to SMA and functional changes in circulating IL-10, TNF-alpha, and IL-12 levels in children with falciparum malaria...
  85. ncbi Polymorphisms in OATP-C: identification of multiple allelic variants associated with altered transport activity among European- and African-Americans
    R G Tirona
    Division of Clinical Pharmacology, Departments of Medicine and Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 6602, USA
    J Biol Chem 276:35669-75. 2001
    ....
  86. ncbi Nasopharyngeal carcinoma and genetic polymorphisms of DNA repair enzymes XRCC1 and hOGG1
    En Yu Cho
    Graduate Institute of Epidemiology, College of Public Health, National Taiwan University, Taipei 10018, Taiwan
    Cancer Epidemiol Biomarkers Prev 12:1100-4. 2003
    ..5-177). Polymorphisms of the DNA repair genes hOGG1 (codon 326) and XRCC1 (codon 280) are associated with an altered risk of NPC. Carriers of multiple putative high-risk genotypes have the highest risk of developing NPC...
  87. ncbi 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...
  88. ncbi A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig
    Anne Sophie Van Laere
    Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala University, BMC, Box 597, SE 751 24 Uppsala, Sweden
    Nature 425:832-6. 2003
    ..The result supports the long-held view that regulatory mutations are important for controlling phenotypic variation...
  89. ncbi Identification of prion protein gene polymorphisms in goats from Italian scrapie outbreaks
    P L Acutis
    CEA Centro di referenza per le Encefalopatie Animali, Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d Aosta, Via Bologna 148, 10154 Turin, Italy
    J Gen Virol 87:1029-33. 2006
    ..Twelve alleles were determined by cloning. Statistical analysis suggested a possible protective role against scrapie for the glutamine to lysine mutation at codon 222...
  90. ncbi The origin and age of Plasmodium vivax
    Omar E Cornejo
    Emory University, Program in Population Biology, Ecology and Evolution, Atlanta, GA 20322, USA
    Trends Parasitol 22:558-63. 2006
    ..We discuss how sampling might affect time estimates to the most recent common ancestor for P. vivax populations and suggest that spatially explicit estimates are needed to understand the demographic history of this parasite better...
  91. ncbi 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...
  92. ncbi Prion protein gene polymorphisms in natural goat scrapie
    Charalambos Billinis
    Laboratory of Microbiology and Infectious Diseases, Laboratory of Pathology and Clinic of Productive Animal Medicine, Faculty of Veterinary Medicine, Aristotle University, 54006 Thessaloniki, Greece
    J Gen Virol 83:713-21. 2002
    ....
  93. ncbi Serotonin transporter (5-HTTLPR) genotype and amygdala activation: a meta-analysis
    Marcus R Munafo
    Department of Experimental Psychology, University of Bristol, United Kingdom
    Biol Psychiatry 63:852-7. 2008
    ..We evaluated the magnitude of the reported associations between amygdala activation and the serotonin transporter gene linked polymorphic region (5-HTTLPR) and the likely effect size of this relationship...
  94. ncbi Natural selection on genes that underlie human disease susceptibility
    Ran Blekhman
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Curr Biol 18:883-9. 2008
    ..In contrast, the class of genes that influence complex-disease risk shows little signs of evolutionary conservation, possibly because this category includes targets of both purifying and positive selection...
  95. ncbi The transition to self-compatibility in Arabidopsis thaliana and evolution within S-haplotypes over 10 Myr
    Jesper S Bechsgaard
    Ecology and Genetics, Institute of Biological Sciences, University of Aarhus, Denmark
    Mol Biol Evol 23:1741-50. 2006
    ..thaliana, at least for some period after their split. In addition, the coalescence times of sequences of individual S-haplogroups are expected to be less than those of alleles at non-S-loci...
  96. ncbi SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci
    Yong Yong Shi
    Bio-X Life Science Research Center, Shanghai Jiao Tong University, Shanghai, China
    Cell Res 15:97-8. 2005
    ..The platform has been well evaluated by several sets of real data...
  97. ncbi Molecular studies of identification of genes for osteoporosis: the 2002 update
    Yao-Zhong Liu
    Department of Biomedical Sciences, Creighton University, 601 N 30th St, Suite 6787, Omaha, Nebraska 68131, USA
    J Endocrinol 177:147-96. 2003
    ..The format adopted by this review should be ideal for accommodating future new advances and studies in a fairly young field that is still developing rapidly...
  98. ncbi Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans
    Sarah E Calvo
    Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
    Proc Natl Acad Sci U S A 106:7507-12. 2009
    ..Together, our results suggest that uORFs influence the protein expression of thousands of mammalian genes and that variation in these elements can influence human phenotype and disease...
  99. ncbi Identification of an allelic variant of the goat PrP gene associated with resistance to scrapie
    Gabriele Vaccari
    Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanita, Rome, Italy
    J Gen Virol 87:1395-402. 2006
    ..The allelic variant encoding lysine at position 222 could be a valuable candidate to select in the framework of appropriate breeding programmes for scrapie resistance in goats...
  100. ncbi The role of toll-like receptors in chronic inflammation
    Stefan K Drexler
    Kennedy Institute of Rheumatology Division, Faculty of Medicine, Imperial College of Science, Technology and Medicine, 1 Aspenlea Road, Hammersmith, London W6 8LH, UK
    Int J Biochem Cell Biol 42:506-18. 2010
    ..However, future therapies targeting individual TLRs or their signalling transducers may provide a more specific way of treating inflammatory diseases without global suppression of the immune system...
  101. ncbi Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study
    Mandy van Hoek
    Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands
    Diabetes 57:3122-8. 2008
    ..Genome-wide association (GWA) studies identified multiple new genetic variants that associate with type 2 diabetes. The predictive value of genetic testing for prediction of type 2 diabetes in the general population is unclear...

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: 2009
    ..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: 2010
    ..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. Host Genetic Epidemiology in HIV-1-Discordant African Couples and Other Cohorts
    RICHARD ALAN KASLOW; Fiscal Year: 2010
    ....
  15. 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. ..
  16. Longitudinal Population-Based Study of Vulvodynia
    Barbara D Reed; Fiscal Year: 2010
    ....
  17. GLUTATHIONE TRANSFERASES IN HUMANS: DIETARY INFLUENCES
    Johanna Lampe; Fiscal Year: 2006
    ..abstract_text> ..
  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. ..