Genome-wide strategies for detecting multiple loci that influence complex diseases

Nature Genetics

Volumn 37, Issue 4, 2005, Pages 413-417

  Marchini, Jonathan ^a   Donnelly, Peter ^a   Cardon, Lon R ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTIC METHOD; ARTICLE; GENE FREQUENCY; GENE INTERACTION; GENE LOCUS; GENE REPLICATION; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC VARIABILITY; GENOME; MATHEMATICAL COMPUTING; POPULATION; PRIORITY JOURNAL; STATISTICAL ANALYSIS;

ALLELES; GENETIC DISEASES, INBORN; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETICS, POPULATION; GENOME, HUMAN; HUMANS; LINKAGE (GENETICS); MODELS, GENETIC;

EID: 16844366786     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1537     Document Type: Article

References (29)

1. Phillips, P.C. The language of gene interaction. Genetics 149, 1167-1171 (1998).
2. Risch, N.J. Searching for genetic determinants in the new millennium. Nature 405, 847-856 (2000).
3. Ozaki, K. et al. Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat. Genet. 32, 650-654 (2002).
4. Roses, A. The genome era begins. Nat. Genet. 33 (Supp 2), 217 (2003).
5. Thomas, D.C. Statistical Methods in Genetic Epidemiology (Oxford University Press, Oxford, 2004).
6. Mackay, T.F. Quantitative trait loci in Drosophila. Nat. Rev. Genet. 2, 11-20 (2001).
7. Williams, S.M., Haines, J.L. & Moore, J.H. The use of animal models in the study of complex disease: all else is never equal or why do so many human studies fail to replicate animal findings? Bioessays 26, 170-179 (2004).
8. Routman, E.J. & Cheverud, J.M. Gene effects on a quantitative trait: Two-locus epistatic effects measured at microsatellite markers and at estimated QTL. Evolution 51, 1654-1662 (1997).
9. Segre, D., Deluna, A., Church, G.M. & Kishony, R. Modular epistasis in yeast metabolism. Nat. Genet. 37, 77-83 (2005).
10. Sing, C.F. & Davignon, J. Role of the apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation. Am. J. Hum. Genet. 37, 268-285 (1985).
11. Zerba, K.E., Ferrell, R.E. & Sing, C.F. Complex adaptive systems and human health: the influence of common genotypes of the apolipoprotein E (ApoE) gene polymorphism and age on the relational order within a field of lipid metabolism traits. Hum. Genet. 107, 466-475 (2000).
12. Hoh, J. & Ott, J. Mathematical multi-locus approaches to localizing complex human trait genes. Nat. Rev. Genet. 4, 701-709 (2003).
13. Culverhouse, R., Suarez, B.K., Lin, J. & Reich, T. A perspective on epistasis: limits of models displaying no main effect. Am. J. Hum. Genet. 70, 461-471 (2002).
14. Moore, J.H. & Ritchie, M.D. The challenges of whole-genome approaches to common diseases. JAMA 291, 1642-1643 (2004).
15. Kempthorne, O. An introduction to Genetic Statistics (John Wiley & Sons, New York, 1957).
16. Carlson, C.S., Newman, T.L. & Nickerson, D.A. SNPing in the human genome. Curr. Opin. Chem. Biol. 5, 78-85 (2001).
17. Lohmueller, K.E., Pearce, C.L., Pike, M., Lander, E.S. & Hirschhorn, J.N. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat. Genet. 33, 177-182 (2003).
18. Carlson, C.S., Eberle, M.A., Kruglyak, L. & Nickerson, D.A. Mapping complex disease loci in whole-genome association studies. Nature 429, 446-452 (2004).
19. Templeton, A.R. Epistasis and complex traits. in Epistasis and the Evolutionary Process (eds. Wolf, J.B., Brodie, E.D.I. & Wade, M.J.) 41-57 (Oxford University Press, New York, 2000).
20. Zondervan, K.T. & Cardon, L.R. The complex interplay among factors that influence allelic association. Nat. Rev. Genet. 5, 89-100 (2004).
21. Ioannidis, J.P., Ntzani, E.E., Trikalinos, T.A. & Contopoulos-Ioaunidis, D.G. Replication validity of genetic association studies. Nat. Genet. 29, 306-309 (2001).
22. Moore, J.H. The ubiquitous nature of epistasis in determining susceptibility to common human diseases. Hum. Hered. 56, 73-82 (2003).
23. Sham, P., Bader, J.S., Craig, I., O'Donovan, M. & Owen, M. DNA pooling: A tool for large-scale association studies. Nat. Rev. Genet. 3, 862-871 (2002).
24. Tiwari, H.K. Deriving components of genetic variance for multilocus models. Genet. Epidemiol. 14, 1131-1136 (1997).
25. Schlesselman, J.J. Case-Control Studies: Design, Conduct, Analysis (Oxford University Press, Oxford, 1982).
26. Sham, P. Statistics in Human Genetics (Hodder Arnold, London, 1997).
27. Clayton, D. Population association. in Handbook of Statistical Genetics (eds. Balding, D.J., Bishop, M. & Cannings, C.) 519-540 (John Wiley & Sons, New York, 2001).
28. Hoh, J. et al. Selecting SNPs in two-stage analysis of disease association data: a model-free approach. Ann. Hum. Genet. 64, 413-417 (2000).
29. Marchini, J., Cardon, L.R., Phillips, M.S. & Donnelly, P. The effects of human population structure on large genetic association studies. Nat. Genet. 36, 512-517 (2004).