Rational inferences about departures from Hardy-Weinberg equilibrium

American Journal of Human Genetics

Volumn 76, Issue 6, 2005, Pages 967-986

  Wittke Thompson, Jacqueline K ^a   Pluzhnikov, Anna ^a   Cox, Nancy J ^a,b  

^a UNIVERSITY OF CHICAGO   (United States)

^b THE UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTIC METHOD; ANALYTICAL ERROR; ARTICLE; CALCULATION; COMPUTER PROGRAM; CONTROLLED STUDY; CORRELATION ANALYSIS; DEPARTURE FROM HARDY WEINBERG EQUILIBRIUM; DISEASE MODEL; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENETIC MODEL; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HARDY WEINBERG DISTRIBUTION LAW; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; PARAMETER; POPULATION GENETICS; PRIORITY JOURNAL; QUALITY CONTROL; TECHNIQUE;

EID: 18944370235     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/430507     Document Type: Article

References (24)

1. Castle WE (1903) The laws of heredity of Galton and Mendel, and some laws governing race improvement by selection. Proc Am Acad Arts Sci 39:223-242
2. Cramer H (1946) Mathematical methods of statistics. Princeton University Press, Princeton, NJ
3. Gomes I, Collins A, Lonjou C, Thomas NS, Wilkinson J, Watson M, Morton N (1999) Hardy-Weinberg quality control. Ann Hum Genet 63:535-538
4. Györffy B, Kocsis I, Vásárhelyi B (2004) Biallelic genotype distributions in papers published in Gut between 1998 and 2003: altered conclusions after recalculating the Hardy-Weinberg equilibrium. Gut 53:614-616
5. Hampe J, Cuthbert A, Croucher PJP, Mirza MM, Mascheretti S, Fischer S, Frenzel H, King K, Hasselmeyer A, MacPherson AJS, Bridger S, van Deventer S, Forbes A, Nikolaus S, Lennard-Jones JE, Foelsch UR, Krawczak M, Lewis C, Schreiber S, Mathew CG (2001) Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. Lancet 357:1925-1928
6. Hardy GH (1908) Mendelian proportions in a mixed population. Science 18:49-50
7. Hosking L, Lumsden S, Lewis K, Yeo A, McCarthy L, Bansal A, Riley J, Purvis I, Xu CF (2004) Detection of genotyping errors by Hardy-Weinberg equilibrium testing. Eur J Hum Genet 12:395-399
8. Kocsis I, Györffy B, Németh E, Vásárhelyi B (2004a) Examination of Hardy-Weinberg equilibrium in papers of Kidney International: an underused tool. Kidney Int 65:1956-1958
9. Kocsis I, Vásárhelyi B, Györffy A, Györffy B (2004b) Reanalysis of genotype distributions published in Neurology between 1999 and 2002. Neurology 63:357-358
10. Levecque C, Elbaz A, Clavel J, Richard F, Vidal J, Amouyel P, Tzourio C, Alpérovitch A, Chartier-Harlin M (2003) Association between Parkinson's disease and polymorphisms in the nNos and iNos genes in a community-based case-control study. Hum Mol Genet 12:79-86
11. Li CC (1967) Castle's early work on selection and equilibrium. Am J Hum Genet 19:70-74
12. Martin ER, Lai EH, Gilbert JR, Rogala AR, Afshari AJ, Riley J, Finch KL, Stevens JF, Livak KJ, Slotterbeck BD, Slifer SH, Warren LL, Conneally PM, Schmechel DE, Purvis I, Pericak-Vance MA, Roses AD, Vance JM (2000) SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. Am J Hum Genet 67:383-394
13. Nejentsev S, Laaksonen M, Tienari PJ, Fernandez O, Cordell H, Ruutiainen J, Wikstrom J, Pastinen T, Kuokkanen S, Hillert J, Ilonen J (2003) Intercellular adhesion molecule-1 K469E polymorphism: study of association with multiple sclerosis. Hum Immunol 64:345-349
14. Nielsen DM, Ehm MG, Weir BS (1998) Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus. Am J Hum Genet 63:1531-1540
15. Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar J-P, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nuñez G, Cho JH (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411:603-606
16. Oka A, Tamiya G, Tomizawa M, Ota M, Katsuyama Y, Makino S, Shiina T, Yoshitome M, Iizuka M, Sasao Y, Iwashita K, Kawakubo Y, Sugai J, Ozawa A, Ohkido M, Kimura M, Bahram S, Inoko H (1999) Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene. Hum Mol Genet 8:2165-2170
17. Osawa H, Yamada K, Onuma H, Murakami A, Ochi M, Kawata H, Nishimiya T, Niiya T, Shimizu I, Nishida W, Hashiramoto M, Kanatsuka A, Fujii Y, Ohashi J, Makino H (2004) The G/G genotype of a resistin single-nucleotide polymorphism at -420 increases type 2 diabetes mellitus susceptibility by inducing promoter activity through specific binding of Sp1/3. Am J Hum Genet 75:678-686
18. Ozaki K, Ohnishi Y, Iida A, Sekine A, Yamada R, Tsunoda T, Sato H, Sato H, Hori M, Nakamura Y, Tanaka T (2002) Function SNPs in the lymphotoxin-α gene that are associated with susceptibility to myocardial infarction. Nat Genet 32:650-654
19. Risch N (1990) Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 46:222-228
20. Wang L, Sato K, Tsuchiya N, Yu J, Ohyama C, Satoh S, Habuchi T, Ogawa O, Kato T (2003) Polymorphisms in prostate-specific antigen (PSA) gene, risk of prostate cancer, and serum PSA levels in Japanese population. Cancer Letters 202:53-59
21. Weinberg W (1908) On the demonstration of heredity in man. In: Boyer SH (ed) (1963) Papers on human genetics. Prentice-Hall, Englewood Cliffs, NJ
22. Weir BS (1996) Disequilibrium. In: Genetic data analysis IL methods for discrete population genetic data. Sinaur Associates, Sunderland, MA, pp 91-139
23. Xu J, Turner A, Little J, Bleecker ER, Meyers DA (2002) Positive results in association studies are associated with departure from Hardy-Weinberg equilibrium: hint for genotyping error? Hum Genet 111:573-574
24. Xu J, Zheng SL, Hawkins GA, Faith DA, Kelly B, Isaacs SD, Wiley KE, Chang B, Ewing CM, Bujnovszky P, Carpten JD, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB (2001) Linkage and association studies of prostate cancer susceptibility: evidence for linkage at 8p22-23. Am J Hum Genet 69:341-350