Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration (original) (raw)
References
Seddon, J.M. et al. A genomewide scan for age-related macular degenerations providences evidence for linkage to several chromosomal regions. Am. J. Hum. Genet.73, 780–790 (2003). ArticleCAS Google Scholar
Weeks, D.E. et al. Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions. Am. J. Ophthalmol.132, 682–692 (2001). ArticleCAS Google Scholar
Majewski, J. et al. Age-related macular degeneration—a genome scan in extended families. Am. J. Hum. Genet.73, 540–550 (2003). ArticleCAS Google Scholar
Iyengar, S.K. et al. Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration. Am. J. Hum. Genet.74, 20–39 (2004). ArticleCAS Google Scholar
Klein, R.J. et al. Complement factor H polymorphism in age-related macular degeneration. Science308, 385–389 (2005). ArticleCAS Google Scholar
Edwards, A.O. et al. Complement factor H polymorphism and age-related macular degeneration. Science308, 421–424 (2005). ArticleCAS Google Scholar
Hageman, G.S. et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc. Natl. Acad. Sci. USA102, 7227–7232 (2005). ArticleCAS Google Scholar
Haines, J.L. et al. Complement Factor H variant increases the risk of age-related macular degeneration. Science308, 419–421 (2005). ArticleCAS Google Scholar
Seddon, J.M., Sharma, S. & Adelman, R.A. Evaluation of the clinical age-related maculopathy staging system. Ophthalmology113, 260–266 (2006). Article Google Scholar
Rivera, A. et al. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum. Mol. Genet.14, 3227–3236 (2005). ArticleCAS Google Scholar
Jakobsdottir, J. et al. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am. J. Hum. Genet.77, 389–407 (2005). ArticleCAS Google Scholar
Gold, B. et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat. Genet.38, 458–462 (2006). ArticleCAS Google Scholar
Seddon, J.M., Ajani, U.A. & Mitchell, B.D. Familial aggregation of age-related maculopathy. Am. J. Ophthalmol.123, 199–206 (1997). ArticleCAS Google Scholar
Heiba, I.M., Elston, R.C., Klein, B.E. & Klein, R. Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study. Genet. Epidemiol.11, 51–67 (1994). ArticleCAS Google Scholar
Klaver, C.C. et al. Genetic risk of age-related maculopathy. Population-based familial aggregation study. Arch. Ophthalmol.116, 1646–1651 (1997). Article Google Scholar
Seddon, J., George, S., Rosner, B. & Klein, M. CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum. Hered.61, 157–165 (2006). ArticleCAS Google Scholar
Fisher, R.A. The correlation between relatives on the supposition of Mendelian inheritance. Trans. R. Soc. Edinburgh.52, 399–433 (1918). Article Google Scholar
Age-Related Eye Disease Study Research Group. A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C & E, beta carotene, and zinc for age-related macular degeneration and vision loss. Arch. Ophthalmol.119, 1417–1436 (2001).
Seddon, J.M., Cote, J., Davis, N. & Rosner, B. Progression of age-related macular degeneration: Association with body mass index, waist circumference and waist-hip ratio. Arch. Ophthalmol.121, 785–792 (2003). Article Google Scholar
Seddon, J.M., Cote, J., Davis, N. & Rosner, B. Progression of age-related macular degeneration: association with dietary fat, transunsaturated fat, nuts, and fish intake. Arch. Ophthalmol.121, 1728–1737 (2003). Article Google Scholar
Snow, K.K. et al. Association between reproductive factors and age-related maculopathy in post-menopausal women. Am. J. Ophthalmol.134, 842–848 (2002). ArticleCAS Google Scholar
Seddon, J.M., Cote, J., Page, W.F., Aggen, S. & Neale, M. The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. Arch. Ophthalmol.123, 321–327 (2005). Article Google Scholar
Fisher, S.A. et al. Meta-analysis of genome scans of age-related macular degeneration. Hum. Mol. Genet.14, 2257–2264 (2005). ArticleCAS Google Scholar
Haddad, S., Chen, C., Santangelo, S.L. & Seddon, J.M. The genetics of age-related macular degeneration: a review of progress to date. Surv. Ophthalmol.51, 316–363 (2006). Article Google Scholar
Sham, P.C. et al. Haplotype association analysis of discrete and continuous traits using mixture of regression models. Behav. Genet.34, 207–214 (2004). ArticleCAS Google Scholar
Cordell, H.J. Estimation and testing of genotype and haplotype effects in case-control studies: comparison of weighted regression and multiple imputation procedures. Genet. Epidemiol.30, 259–275 (2006). Article Google Scholar
Risch, N. & Merikangas, K. The future of genetic studies of complex human diseases. Science273, 1516–1517 (1996). ArticleCAS Google Scholar
Devlin, B. & Roeder, K. Genomic control for association studies. Biometrics55, 997–1004 (1999). ArticleCAS Google Scholar