Population-Based Study of Early Age-Related Macular Degeneration: Role of the Complement Factor H Y402H Polymorphism in Bilateral but Not Unilateral Disease
Received 29 December 2005; accepted 4 July 2006.
Objective
Recently, a strong association has been observed for the complement factor H (CFH) Tyr402His polymorphism with early and advanced age-related macular degeneration (AMD) in independent non-Hispanic White, clinic-based, case–control studies. These studies suggest the CFH His402 allele is a major risk allele in early and advanced AMD, explaining 43% to 70% of all AMD in older adults. We utilized a population-based case–control study design of early AMD among Latinos/Hispanics to evaluate the CFH Tyr402His polymorphism for an association with early AMD phenotypes.
This study cohort consists of 285 early AMD cases and 570 controls matched on age, birthplace, and smoking status.
Methods
Genotype determination was performed by allele-specific digestion of polymerase chain reaction products.
Main Outcome Measures
Complement factor H Tyr402His polymorphism.
Results
We observed no overall statistically significant association with early AMD among Latinos. However, a subset of early AMD cases that have bilateral, not unilateral, intermediate-to-large soft macular drusen were 1.7 times more likely to carry either the homozygous or heterozygous His402 genotype.
Conclusions
Our data suggest that the CFH Tyr402His is not a major risk factor for overall early AMD in this Latino population, but may play a role in susceptibility to phenotypes of early AMD likely to progress to late AMD.
1Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
2Arnold and Mabel Beckman Macular Research Center, Doheny Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, California.
3Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, California.
4Department of Pathology and Laboratory Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
5Department of Pathology, Children’s Hospital Los Angeles, Los Angeles, California.
Correspondence to David R. Hinton, Department of Pathology and Laboratory Medicine, Keck School of Medicine, University of Southern California, 2011 Zonal Avenue, HMR 209, Los Angeles, CA 90033.
Manuscript no. 2006-39.
Supported by the Arnold and Mabel Beckman Foundation, Irvine, California; National Eye Institute and National Center on Minority Health and Health Disparities, Bethesda, Maryland (grant nos. EY-11753, EY-03040); and an unrestricted grant from Research to Prevent Blindness, New York, New York.
The authors have no commercial or proprietary interest in the products or companies mentioned in the article.
1 Drs Triche and Hinton contributed equally to the work.
ABSTRACT