Population-based study of early age-related macular degeneration: role of the complement factor H Y402H polymorphism in bilateral but not unilateral disease.
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.


METHODS
Retrospective population-based case-control study.


METHODS
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.


METHODS
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.
Tedeschi-Blok
Nicole
N
Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
Buckley
Jonathan
J
Varma
Rohit
R
Triche
Timothy J
TJ
Hinton
David R
DR
D000483:Alleles; D016022:Case-Control Studies; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D007839:Functional Laterality / Q000235:genetics*; D005838:Genotype; D006630:Hispanic or Latino / Q000208:ethnology; D006801:Humans; D008268:Macular Degeneration / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D012307:Risk Factors
C493495:CFH protein, human; D017242:Complement Factor H