Abstract
Genetic factors play a substantive role in the susceptibility to common diseases. Due to recent advancements in the characterization of genetic variants and large-scale genotyping platforms, multiple genes have now been identified for common, complex diseases. As a result, there is an immense interest in elucidating genetic factors in complex traits. Therefore, it is important to understand the design as well as the technical and statistical issues of the two most common approaches for gene identification: linkage and association.
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References
1. Lander, E. S., Schork, N. J. (1994) Genetic dissection of complex traits. Science 265, 2037–2047.
2. Newton-Cheh, C., Hirschhorn, J. N. (2005) Genetic association studies of complex traits: Design and analysis issues. Mutation Res 573, 54–69.
3. Ghosh, S., Collins, F. S. (1996) The geneticist's approach to complex disease. Ann Rev Med 47, 333–353.
4. Hirschhorn, J. N. (2005) Genetic approaches to studying common diseases and complex traits. Pediatrics Res 57 (5), 74–77.
5. Risch, N.(1997) Genetic linkage from an epidemiological perspective. Epidemiol Rev 19, 24–32.
6. Bandrup, F. (1982) Psoriasis in monozygotic twins. Variations in expression of individuals with identical genetic constitution. Acta Dermatol 62, 229–236.
7. Farber, E. M., Nail, L., et al. (1974). Natural history of psoriasis in 61 twin pairs. Arch Dermatol 1 (9), 207–211.
8. Risch, N. (1990) Linkage strategies for genetically complex traits, 1. Multilocus model. Am J Hum Genet 46, 222–228.
9. Heneseler, T. (1997) The genetics of psoriasis. J Am Acad Dermatol 37, S1—S11.
10. Sherman, S. L. (1997) Evolving methods in genetic epidemiology, IV. Approaches to non-Mendelian inheritance. Epidemiol Rev 19: (1), 44–51.
11. Harper, P. S., Harley, H. G., Reardon, W., et al. (1992) Anticipation in myotonic dystrophy: New insights on an old problem. Am J Hum Genet 51, 10–16.
12. Hall, J. G. (1990) Genomic imprinting: Review and relevance to human diseases. Am J Hum Genet 46, 857–873.
13. Langlois, S., Lopez-Rangel, E., Hall, J. G. (1995) New mechanisms for genetic disease and nontraditional modes of inheritance. Adv Pediatric 42, 91–111.
14. Rahman, P., Gladman, D. D., Schentag, C. T., Petronis, A. (1999) Excessive paternal transmission in psoriatic arthritis. Arthritis Rheum 42 (6), 1228–1231.
15. Wallace, D. C. (1992) Disease of the mitochondrial DNA. Ann Rev Biochem 61, 1175–1212.
16. Sham, P. (1998) Statistics in Human Genetics. John Wiley & Sons, London.
17. Kruglyak, L., Daly, M. J., Reeve-Daly, M. P., et al. (1996) Parametic and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 58, 1347–1363.
18. Ott J. (1999) Analysis of Human Genetic Linkage, 3rd ed. Johns Hopkins University Press, Baltimore, MD.
19. Nagase, H. (1993) Mutations of the APC gene. Hum Mut 2, 425–434.
20. Morton, N. E. (1955) Sequential tests for detection of linkage. Am J Hum Genet 7, 277–318.
21. Lander, E., Kruglyak, L. (1995) Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results. Nat Genet 11, 241–247.
22. Risch, N. (1990) Linkage strategies for complex traits, II. The power of affected relative pairs. Am J Hum Genet 46, 219–221.
23. The International HapMap Consortium. (2003) The international HapMap project. Nature 426, 789–796
24. Gottesman, I, I,, Gould, T. D. (2003) The endophenotype concept in psychiatry: Etymology and strategic intentions. Am J Psychiatry 160 (4), 636–645.
25. Cordell, H. J., Clayton, D. G. (2005) Genetic Epidemiology, 3: Genetic association studies. Lancet 366:1121–1131
26. Ehm, M. G., Nelson, M. R., Spurr, N. K. (2005) Guidelines for conducting and reporting whole genome/large scale association studies. Hum Molec Genet 14 (17), 2485–2488.
27. Duerr, R. H., Taylor, K. D., Brant, S. R., Rioux, J. D., Silverberg, M. S., Daly, M. J., et al. (2006) A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314 (5804),1461–1463.
28. Huizinga, T. W. J., Pisetsky, D. S., Kimberly, R. P. (2004) Associations, populations, truth. Arthritis Rheum 50 (7),2066–2071.
29. Hischhorn, J. N., Lohmueller, K., Byrne, E., Hischhorn, K. (2002) A comprehensive review of genetic association studies. Genet Med 4, 45–61.
30. Hirschhorn, J. N., Daly, M. J. (2005) Genome wide association studies for common diseases and complex traits. Nature Rev 6, 95–108.
31. Freimer, N. B., Sabatti, C. (2005) Guidelines for association studies. Hum Molec Genet. 14 (17), 2481–2483.
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© 2008 Humana Press, a part of Springer Science+Business Media, LLC
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Peddle, L., Rahman, P. (2008). Genetic Epidemiology of Complex Phenotypes. In: Barrett, B., Parfrey, P. (eds) Clinical Epidemiology. Methods in Molecular Biology™, vol 473. Humana Press. https://doi.org/10.1007/978-1-59745-385-1_11
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DOI: https://doi.org/10.1007/978-1-59745-385-1_11
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