Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Proceedings of the National Academy of Sciences of the United States of America

Volumn 106, Issue 23, 2009, Pages 9362-9367

  Hindorff, Lucia A ^a   Sethupathy, Praveen ^a   Junkins, Heather A ^a   Ramos, Erin M ^a   Mehta, Jayashri P ^b   Collins, Francis S ^a   Manolio, Teri A ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Catalog; Disorders; Evolution; GWAS; Polymorphism

Indexed keywords

SPACER DNA;

ARTICLE; BIOINFORMATICS; GENE FREQUENCY; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SELECTION; GENETIC TRAIT; GENOTYPE; HUMAN; INTRON; MICROARRAY ANALYSIS; MOLECULAR EVOLUTION; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

DISEASE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 67249117049     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0903103106     Document Type: Article

References (18)

1. Manolio TA, Brooks LD, Collins FS (2008) A HapMap harvest of insights into the genetics of common disease. J Clin Invest 118:1590-1605. (Pubitemid 351632361)
2. McCarthy MI, Hirschhorn JN (2008) Genome-wide association studies: Potential next steps on a genetic journey. Hum Mol Genet 17:R156-165.
3. Cho JH (2008) The genetics and immunopathogenesis of inflammatory bowel disease. Nat Rev Immunol 8:458-466. (Pubitemid 351733422)
4. Eeles RA, et al. (2008) Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet 40:316-321. (Pubitemid 351311772)
5. Kent WJ, et al. (2002) The human genome browser at UCSC. Genome Res 12:996-1006. (Pubitemid 34662293)
6. Sulem P, et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet 39:1443-1452. (Pubitemid 350191337)
7. Ramensky V, Bork P, Sunyaev S (2002) Human nonsynonymous SNPs: Server and survey. Nucleic Acids Res 30:3894-3900. (Pubitemid 35012462)
8. Hayhurst GP, Lee YH, Lambert G, Ward JM, Gonzalez FJ (2001) Hepatocyte nuclear factor 4alpha (nuclear receptor 2A1) is essential for maintenance of hepatic gene expression and lipid homeostasis. Mol Cell Biol 21:1393-1403. (Pubitemid 32114986)
9. Rufibach LE, Duncan SA, Battle M, Deeb SS (2006) Transcriptional regulation of the human hepatic lipase (LIPC) gene promoter. J Lipid Res 47:1463-1477. (Pubitemid 44079901)
10. Voight BF, Kudaravalli S, Wen X, Pritchard JK (2006) A map of recent positive selection in the human genome. PLoS Biol 4:e72.
11. Summers K, Crespi B (2008) Molecular evolution of the prostate cancer susceptibility locus RNASEL: Evidence for positive selection. Infect Genet Evol 8:297-301.
12. Sabeti PC, et al. (2007) Genome-wide detection and characterization of positive selection in human populations. Nature 449:913-918.
13. Lao O, de Gruijter JM, van Duijn K, Navarro A, Kayser M (2007) Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms. Ann Hum Genet 71:354-369. (Pubitemid 46585678)
14. Neel JV (1962) Diabetes mellitus: A "thrifty" genotype rendered detrimental by "progress"? Am J Hum Genet 14:353-362.
15. Georges M, Coppieters W, Charlier C (2007) Polymorphic miRNA-mediated gene regulation: Contribution to phenotypic variation and disease. Curr Opin Genet Dev 17:166-176. (Pubitemid 46843549)
16. Sethupathy P, Collins FS (2008) MicroRNA target site polymorphisms and human disease. Trends Genet 24:489-497.
17. Visscher PM, Hill WG, Wray NR (2008) Heritability in the genomics era-concepts and misconceptions. Nat Rev Genet 9:255-266.
18. Thomas G, et al. (2008) Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet 40:310-315. (Pubitemid 351311773)