A prevalence-based association test for case-control studies

Genetic Epidemiology

Volumn 32, Issue 7, 2008, Pages 600-605

  Ryckman, Kelli K ^a,b   Jiang, Lan ^a   Li, Chun ^a,b   Bartlett, Jacquelaine ^a   Haines, Jonathan L ^a,c   Williams, Scott M ^a,c  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b VANDERBILT UNIVERSITY   (United States)

^c VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Association testing; Case control studies; Hardy Weinberg equilibrium

Indexed keywords

ARTICLE; BIOSTATISTICS; CASE CONTROL STUDY; DISEASE ASSOCIATION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MODEL; GENOTYPE; POPULATION GENETICS; PREVALENCE; RETINA MACULA AGE RELATED DEGENERATION; AGING; ALLELE; BIOLOGICAL MODEL; COMPUTER SIMULATION; GENE LINKAGE DISEQUILIBRIUM; GENETICS; HUMAN; METHODOLOGY; REPRODUCIBILITY; RETINA MACULA DEGENERATION; STATISTICAL MODEL;

AGING; ALLELES; CASE-CONTROL STUDIES; COMPUTER SIMULATION; GENE FREQUENCY; GENETICS, POPULATION; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; MACULAR DEGENERATION; MODELS, GENETIC; MODELS, STATISTICAL; PREVALENCE; REPRODUCIBILITY OF RESULTS; RESEARCH DESIGN;

EID: 58949104693     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.20342     Document Type: Article

References (20)

1. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Jr., Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK. 1996. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:399-408.
2. Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, Schnetz-Boutand N, Agarwal A, Postel EA, Pericak-Vance MA. 2005. Complement factor H variant increases the risk of age-related macular degeneration. Science 308:419-421.
3. Hakonarson H, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Onyiah CC, Skraban R, Chiavacci RM, Robinson LJ, Stanley CA, Kirsch SE, Devoto M, Monos DS, Grant SF, Polychronakos C. 2008. A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes 57:1143-1146.
4. Hardy GH. 1908. Mendelian proportions in a mixed population. Science 18:49-50.
5. Klein R, Klein BE, Linton KL. 1992. Prevalence of age-related maculopathy. The Beaver Dam Eye Study. Ophthalmology 99:933-943.
6. Knudtson MD, Klein R, Klein BE. 2006. Physical activity and the 15-year cumulative incidence of age-related macular degeneration: the Beaver Dam Eye Study. Br J Ophthalmol 90:1461-1463.
7. Lee WC. 2003. Searching for disease-susceptibility loci by testing for Hardy-Weinberg disequilibrium in a gene bank of affected individuals. Am J Epidemiol 158:397-400.
8. Moore JH, Hahn LW, Ritchie MD, Thornton TA, White BC. 2004. Routine discovery of high-order epistasis models for computational studies in human genetics. Appl Soft Comput 4:79-86.
9. 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.
10. Nielsen DM, Weir BS. 1999. A classical setting for associations between markers and loci affecting quantitative traits. Genet Res 74:271-277.
11. Riffenburgh R. 2006. Statistics in Medicine, 2nd edition. San Diego: Academic Press.
12. Risch N. 2001. Implications of multilocus inheritance for gene-disease association studies. Theor Popul Biol 60:215-220.
13. Schaid DJ, Jacobsen SJ. 1999. Biased tests of association: comparisons of allele frequencies when departing from Hardy-Weinberg proportions. Am J Epidemiol 149:706-711.
14. Schmidt S, Saunders AM, De La Paz MA, Postel EA, Heinis RM, Agarwal A, Scott WK, Gilbert JR, McDowell JG, Bazyk A, Gass JD, Haines JL, Pericak-Vance MA. 2000. Association of the apolipo-protein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Mol Vis 6:287-293.
15. Seddon JM, Ajani UA, Mitchell BD. 1997. Familial aggregation of age-related maculopathy. Am J Ophthalmol 123:199-206.
16. Vingerling JR, Dielemans I, Hofman A, Grobbee DE, Hijmering M, Kramer CF, de Jong PT. 1995. The prevalence of age-related maculopathy in the Rotterdam Study. Ophthalmology 102:205-210.
17. Wallace C, Newhouse SJ, Braund P, Zhang F, Tobin M, Falchi M, Ahmadi K, Dobson RJ, Marcano AC, Hajat C, Burton P, Deloukas P, Brown M, Connell JM, Dominiczak A, Lathrop GM, Webster J, Farrall M, Spector T, Samani NJ, Caulfield MJ, Munroe PB. 2008. Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Am J Hum Genet 82:139-149.
18. Weeks DE, Conley YP, Tsai HJ, Mah TS, Schmidt S, Postel EA, Agarwal A, Haines JL, Pericak-Vance MA, Rosenfeld PJ, Paul TO, Eller AW, Morse LS, Dailey JP, Ferrell RE, Gorin MB. 2004. Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet 75:174-189.
19. Weinberg W. 1908. On the demonstration of heredity in man. In: Boyer SH, editor. Papers on Human Genetics. [Translated, 1963]. Englewood Cliffs, NJ: Prentice Hall.
20. Wittke-Thompson JK, Pluzhnikov A, Cox NJ. 2005. Rational inferences about departures from Hardy-Weinberg equilibrium. Am J Hum Genet 76:967-986.