Editorial: Once and again - Issues surrounding replication in genetic association studies

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 10, 2002, Pages 4438-4441

  Hirschhorn, Joel N ^a,b   Altshuler, David ^c,d  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; EDITORIAL; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; OBESITY; PRIORITY JOURNAL; CHROMOSOME MAP; CHROMOSOME SEGREGATION; GENETIC DISORDER; GENETIC LINKAGE; GENETICS; HUMAN; MUTATION; NOTE;

CORTICOTROPIN RECEPTOR; MELANOCORTIN 4 RECEPTOR; PROTEIN;

CHROMOSOME MAPPING; CHROMOSOME SEGREGATION; GENETIC DISEASES, INBORN; HUMANS; LINKAGE (GENETICS); MUTATION; OBESITY; PROTEINS; RECEPTOR, MELANOCORTIN, TYPE 4; RECEPTORS, CORTICOTROPIN;

EID: 0036775432     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-021329     Document Type: Editorial

References (14)

1. Risch N, Merikangas K 1996 The future of genetic studies of complex human diseases. Science 273:1516-1517
2. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K 2002 A comprehensive review of genetic association studies. Genet Med 4:45-61
3. Jacobson P, Ukkola O, Rankinen T, Snyder EE, Leon AS, Rao DC, Skinner JS, Wilmore JH, Lönn L, Cowan Jr GS, Sjöström L, Bouchard C 2002 Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: The Swedish obese subjects, the HERITAGE Family Study, and a Memphis cohort. J Clin Endocrinol Metab 87:4442-4446
4. Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D, The International SNP Map Working Group 2001 A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409:928-933
5. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D 2002 The structure of haplotype blocks in the human genome. Science 296:2225-2229
6. Pritchard JK 2001 Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 69:124-137
7. Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L, Lander ES 2000 The common PPARγ Pro12A1a polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26:76-80
8. Huszar D, Lynch CA, Fairchild-Huntress V, Dunmore JH, Fang Q, Berkemeier LR, Gu W, Kesterson RA, Boston BA, Cone RD, Smith FJ, Campfield LA, Burn P, Lee F 1997 Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell 88:131-141
9. Vaisse C, Clement K, Guy-Grand B, Froguel P 1998 A frameshift mutation in human MC4R is associated with a dominant form of obesity. Nat Genet 20:113-114
10. Yeo GS, Farooqi IS, Aminian S, Halsall DJ, Stanhope RG, O'Rahilly S 1998 A frameshift mutation in MC4R associated with dominantly inherited human obesity. Nat Genet 20:111-112
11. Gu W, Tu Z, Kleyn PW, Kissebah A, Duprat L, Lee J, Chin W, Maruti S, Deng N, Fisher SL, Franco LS, Burn P, Yagaloff KA, Nathan J, Heymsfield S, Albu J, Pi-Sunyer FX, Allison DB 1999 Identification and functional analysis of novel human melanocortin-4 receptor variants. Diabetes 48:635-639
12. Vaisse C, Clement K, Durand E, Hercberg S, Guy-Grand B, Froguel P 2000 Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J Clin Invest 106:253-262
13. Gotoda T, Scott J, Aitman TJ 1997 Molecular screening of the human melanocortin-4 receptor gene: Identification of a missense variant showing no association with obesity, plasma glucose, or insulin. Diabetologia 40:976-979
14. Ohshiro Y, Sanke T, Ueda K, Shimajiri Y, Nakagawa T, Tsunoda K, Nishi M, Sasaki H, Takasu N, Nanjo K 1999 Molecular scanning for mutations in the melanocortin-4 receptor gene in obese/diabetic Japanese. Ann Hum Genet 63:483-487