Research Topics
Genomes and Genes
| genetic polymorphismSummarySummary: 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
Research Grants
| Scientific Experts
|
Detail Information
Publications
Genetic polymorphism in long-lived people: cues for the presence of an insulin/IGF-pathway-dependent network affecting human longevityMassimiliano 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...
Influence of life stress on depression: moderation by a polymorphism in the 5-HTT geneAvshalom 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...
Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory regionK P Lesch
Department of Psychiatry, University of Wurzburg, Fuchsleinstrasse 15, 97080 Wurzburg, Germany
Science 274:1527-31. 1996....
Statistical tests of neutrality of mutations against population growth, hitchhiking and background selectionY 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...
The pattern of polymorphism in Arabidopsis thalianaMagnus 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...
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussionJ 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...
Adaptive protein evolution at the Adh locus in DrosophilaJ 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...
SIFT: Predicting amino acid changes that affect protein functionPauline 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...
Structure of linkage disequilibrium and phenotypic associations in the maize genomeD 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...
Mycobacterium tuberculosis complex genetic diversity: mining the fourth international spoligotyping database (SpolDB4) for classification, population genetics and epidemiologyKarine Brudey
, Institut Pasteur de Guadeloupe, Guadeloupe
BMC Microbiol 6:23. 2006..The building and mining of extended MTC polymorphic genetic databases is in progress...
Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disordersH M Lachman
Department of Medicine, Albert Einstein College of Medicine, Bronx, New York 10461, USA
Pharmacogenetics 6:243-50. 1996Catechol-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 ..
5-HTTLPR polymorphism impacts human cingulate-amygdala interactions: a genetic susceptibility mechanism for depressionLukas 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....
Ecological niche partitioning between Anopheles gambiae molecular forms in Cameroon: the ecological side of speciationFrederic 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....
Host-parasite coevolutionary conflict between Arabidopsis and downy mildewRebecca L Allen
Warwick, HRI University of Warwick, Wellesbourne, Warwick, CV35 9EF, UK
Science 306:1957-60. 2004....
Serotonin transporter genetic variation and the response of the human amygdalaAhmad 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....
Positive natural selection in the human lineageP C Sabeti
Broad Institute of MIT and Harvard, Cambridge, MA, USA
Science 312:1614-20. 2006....
Common sequence polymorphisms shaping genetic diversity in Arabidopsis thalianaRichard 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...
Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactionsLance 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...
Detecting a local signature of genetic hitchhiking along a recombining chromosomeYuseob 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...
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene databaseLars 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...
Nonrandom distribution and frequencies of genomic and EST-derived microsatellite markers in rice, wheat, and barleyMauricio La Rota
Department of Plant Breeding and Genetics, 240 Emerson Hall, Cornell University, Ithaca, NY 14853, USA
BMC Genomics 6:23. 2005....
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...
The cost of inbreeding in ArabidopsisCarlos D Bustamante
Department of Organismic and Evolutionary Biology, Harvard University, 16 Divinity Avenue, Cambridge, Massachusetts 02138, USA
Nature 416:531-4. 2002....
Genome sequence of enterohaemorrhagic Escherichia coli O157:H7N 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...
Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivoS 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...
Positive and negative selection on noncoding DNA in Drosophila simulansPenelope 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...
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....
Living at the edge: biogeographic patterns of habitat segregation conform to speciation by niche expansion in Anopheles gambiaeCarlo 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...
Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory propertiesS A Green
Department of Medicine Pulmonary, University of Cincinnati Medical Center, Ohio 45267 0564
Biochemistry 33:9414-9. 1994..abstract truncated at 250 words)..
Genetic dissection of transcriptional regulation in budding yeastRachel 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...
The Avr1b locus of Phytophthora sojae encodes an elicitor and a regulator required for avirulence on soybean plants carrying resistance gene Rps1bWeixing 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...
Modulation of paraoxonase (PON1) activityLucio 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....
A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptorD 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...
Molecular origins of rapid and continuous morphological evolutionJohn 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...
Dominant influence of HLA-B in mediating the potential co-evolution of HIV and HLAPhotini 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...
Population structure and transmission dynamics of Plasmodium vivax in rural AmazoniaMarcelo 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...
Pharmacogenomics: translating functional genomics into rational therapeuticsW E Evans
Department of Pharmaceutical Sciences, St Jude Children s Research Hospital, Memphis, TN 38105, USA
Science 286:487-91. 1999....
Genetic polymorphisms and alternative splicing of the hOGG1 gene, that is involved in the repair of 8-hydroxyguanine in damaged DNAT 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...
Molecular marker systems in insects: current trends and future avenuesSusanta 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....
A new approach to estimate parameters of speciation models with application to apesCeline 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...
Role of genotype in the cycle of violence in maltreated childrenAvshalom 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...
Apolipoprotein E: cholesterol transport protein with expanding role in cell biologyR 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...
Molecular typing of IberoAmerican Cryptococcus neoformans isolatesWieland 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...
Estimating diversifying selection and functional constraint in the presence of recombinationDaniel 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...
MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysisMariska 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...
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 controlMassimiliano Bonafe
Department of Experimental Pathology, University of Bologna, 40126 Bologna, Italy
J Clin Endocrinol Metab 88:3299-304. 2003....
Effect of genetic variation in the organic cation transporter 1 (OCT1) on metformin actionYan 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...
Allelic variation of human serotonin transporter gene expressionA 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...
Prevalent connexin 26 gene (GJB2) mutations in JapaneseS 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...
Country-wide assessment of the genetic polymorphism in Plasmodium falciparum and Plasmodium vivax antigens detected with rapid diagnostic tests for malariaNatacha 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...
Detecting polymorphic regions in Arabidopsis thaliana with resequencing microarraysGeorg 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...
KIR: diverse, rapidly evolving receptors of innate and adaptive immunityCarlos 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...
The VNTR polymorphism of the human dopamine transporter (DAT1) gene affects gene expressionS 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...
The amphioxus genome and the evolution of the chordate karyotypeNicholas 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...
Apolipoprotein E: far more than a lipid transport proteinR 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...
Folate intake, MTHFR polymorphisms, and risk of esophageal, gastric, and pancreatic cancer: a meta-analysisSusanna C Larsson
Division of Nutritional Epidemiology, National Institute of Environmental Medicine, Karolinska Institutet, SE 171 77 Stockholm, Sweden
Gastroenterology 131:1271-83. 2006....
Allelic discrimination using fluorogenic probes and the 5' nuclease assayK 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...
Seven haemostatic gene polymorphisms in coronary disease: meta-analysis of 66,155 cases and 91,307 controlsZheng 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....
Bovine prion protein gene (PRNP) promoter polymorphisms modulate PRNP expression and may be responsible for differences in bovine spongiform encephalopathy susceptibilityPetra 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...
Complement factor H polymorphism in age-related macular degenerationRobert J Klein
Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
Science 308:385-9. 2005..This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies...
Genetic biodiversity of Mycobacterium tuberculosis complex strains from patients with pulmonary tuberculosis in CameroonSara Ngo Niobe-Eyangoh
, Centre Pasteur, Yaound, Cameroon
J Clin Microbiol 41:2547-53. 2003....
Plasma concentrations and genetic variation of matrix metalloproteinase 9 and prognosis of patients with cardiovascular diseaseStefan 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...
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHCPaul 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....
Evidence for globally shared, cross-reacting polymorphic epitopes in the pregnancy-associated malaria vaccine candidate VAR2CSAMarion 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...
Genetic diversity and chloroquine selective sweeps in Plasmodium falciparumJohn 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...
Ethnic-specific genetic associations with pulmonary tuberculosisJulio 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....
Homocysteine and stroke: evidence on a causal link from mendelian randomisationJuan 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....
'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....
Oral cancer and genetic polymorphism of DNA double strand break gene Ku70 in TaiwanDa 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...
A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate statusSimonetta 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...
The impact of catechol-O-methyltransferase and dopamine D4 receptor genotypes on neurophysiological markers of performance monitoringUlrike M Krämer
Department of Neuropsychology, Otto von Guericke University, 39106 Magdeburg, Germany
J Neurosci 27:14190-8. 2007....
APOA5-1131T>C polymorphism is associated with triglyceride levels in Chinese menL 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...
Hitchhiking mapping: a population-based fine-mapping strategy for adaptive mutations in DrosophilamelanogasterBettina 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...
LEPR gene polymorphisms: associations with overweight, fat mass and response to diet in womenO 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...
The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transductionS 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...
The catechol-O-methyltransferase polymorphism: relations to the tonic-phasic dopamine hypothesis and neuropsychiatric phenotypesRobert 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....
hOGG1 Ser326Cys polymorphism and lung cancer susceptibilityH 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...
Ser326Cys polymorphism in hOGG1 gene and risk of esophageal cancer in a Chinese populationD 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...
Increased throughput for fragment analysis on an ABI PRISM 377 automated sequencer using a membrane comb and STRand softwareR J Toonen
Section of Evolution and Ecology, University of California, Davis 95616, USA
Biotechniques 31:1320-4. 2001....
Chemokine receptors as HIV-1 coreceptors: roles in viral entry, tropism, and diseaseE 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...
Genetic modifiers of lung disease in cystic fibrosisMitchell 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...
Simultaneous genotyping of four functional loci of human SLC6A4, with a reappraisal of 5-HTTLPR and rs25531J R Wendland
Mol Psychiatry 11:224-6. 2006
Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of Novelty SeekingR P Ebstein
Research Laboratory, S. Herzog Memorial Hospital, Jerusalem, Israel
Nat Genet 12:78-80. 1996
Haplotypes of IL-10 promoter variants are associated with susceptibility to severe malarial anemia and functional changes in IL-10 productionCollins Ouma
Centre for Global Health Research, Kenya Medical Research Institute, University of New Mexico KEMRI Laboratories of Parasitic and Viral Diseases, Kisumu, Kenya
Hum Genet 124:515-24. 2008..006). Results presented here demonstrate that common IL-10 promoter haplotypes condition susceptibility to SMA and functional changes in circulating IL-10, TNF-alpha, and IL-12 levels in children with falciparum malaria...
Polymorphisms in OATP-C: identification of multiple allelic variants associated with altered transport activity among European- and African-AmericansR 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....
Nasopharyngeal carcinoma and genetic polymorphisms of DNA repair enzymes XRCC1 and hOGG1En 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...
Genetic interactions between polymorphisms that affect gene expression in yeastRachel 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...
A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pigAnne 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...
Identification of prion protein gene polymorphisms in goats from Italian scrapie outbreaksP 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...
The origin and age of Plasmodium vivaxOmar 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...
Statistical tests for detecting positive selection by utilizing high-frequency variantsKai 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...
Prion protein gene polymorphisms in natural goat scrapieCharalambos 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....
Serotonin transporter (5-HTTLPR) genotype and amygdala activation: a meta-analysisMarcus 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...
Natural selection on genes that underlie human disease susceptibilityRan 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...
The transition to self-compatibility in Arabidopsis thaliana and evolution within S-haplotypes over 10 MyrJesper 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...
SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism lociYong 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...
Molecular studies of identification of genes for osteoporosis: the 2002 updateYao-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...
Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humansSarah 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...
Identification of an allelic variant of the goat PrP gene associated with resistance to scrapieGabriele 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...
The role of toll-like receptors in chronic inflammationStefan 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...
Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based studyMandy 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 Grants
- FUNCTIONAL CHARACTERIZATION OF AGT GENETIC POLYMORPHISMJun 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)...
- MULTI-ANALYTE WAVEGUIDE IMMUNOSENSINGJAMES HERRON; Fiscal Year: 2002..Present-day methodology for assessing genetic polymorphism involves isolating genes from afflicted individuals using polymerase chain reaction (PCR), sequencing them, ..
- Pharmacogenetics of Ara-C Metabolic PathwayJatinder 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. ..
- Polycyclic aromatic hydrocarbons and birth outcomes in Mexico CityMARIE O NEILL; Fiscal Year: 2009....
- Influence of Genetics and Air Pollution Exposures on Birth OutcomesKathleen 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. ..
- Predicting Placebo Responses Across Disease StatesJon 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. ..
- RENIN/ANGIOTENSIN SYSTEM AND FIBRINOLYSIS IN HUMANSDouglas Vaughan; Fiscal Year: 2001....
- Pharmacogenetics of Ara-C Metabolic PathwayJatinder 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. ..
- Pharmacogenetics of Ara-C Metabolic PathwayJatinder 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. ..
- The Odd-Even Effect of Polymorphic CA repeats in the 5' Regulatory Region of theIVAN 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. ..
- Biomarkers of NNK in prediction of lung cancer development in smokersJian Min Yuan; Fiscal Year: 2009..The findings of the proposed study will have great influence on lung cancer incidence and mortality. ..
- Biomarkers of NNK in prediction of lung cancer development in smokersJian Min Yuan; Fiscal Year: 2010..The findings of the proposed study will have great influence on lung cancer incidence and mortality. ..
- Host Genetic Epidemiology in HIV-1-Discordant African Couples and Other CohortsRICHARD ALAN KASLOW; Fiscal Year: 2010....
- Host Genetic Epidemiology in HIV-1-Discordant African Couples and Other CohortsRICHARD ALAN KASLOW; Fiscal Year: 2010....
- Diet, DNA Repair Genes and Breast Cancer RiskARCHANA MCELIGOT; Fiscal Year: 2007..Additionally, the findings of this study will provide directions for future epigenetic investigations, and targeted cancer prevention strategies. ..
- Longitudinal Population-Based Study of VulvodyniaBarbara D Reed; Fiscal Year: 2010....
- GLUTATHIONE TRANSFERASES IN HUMANS: DIETARY INFLUENCESJohanna Lampe; Fiscal Year: 2006..abstract_text> ..
- HUMAN REQUIREMENTS FOR THE NUTRIENT CHOLINESteven Zeisel; Fiscal Year: 2009....
- HUMAN REQUIREMENTS FOR THE NUTRIENT CHOLINESteven Zeisel; Fiscal Year: 2009....
- Field Studies of Human Immunity to Amebiasis in BangladeshWilliam 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. ..
- Field Studies of Human Immunity to Amebiasis in BangladeshWilliam 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. ..
- Molecular evolution of odorant receptor specificities in DrosophilaSTEPHANIE 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. ..
- POLYMORPHISMS IN PG/COX PATHWAY AND COLORECTAL POLYPSCornelia Ulrich; Fiscal Year: 2003..Finally, we plan to develop a model for integrating information on genetic variability at multiple points in this metabolic pathway. ..
- EPIDEMIOLOGY OF INFANT LEUKEMIAJulie 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). ..
- HUMAN REQUIREMENTS FOR THE NUTRIENT CHOLINESteven Zeisel; Fiscal Year: 2007..abstract_text> ..
- Genes, Hormones & Environment in an Ovarian Cancer ModelDaniel 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. ..
