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. 2007 Sep;144(3):404-408.
doi: 10.1016/j.ajo.2007.05.018. Epub 2007 Jul 12.

Clinical phenotypes associated with the complement factor H Y402H variant in age-related macular degeneration

Milam A Brantley Jr  1 , Sean L Edelstein, Jennifer M King, Rajendra S Apte, Steven M Kymes, Alan Shiels
Affiliations

Clinical phenotypes associated with the complement factor H Y402H variant in age-related macular degeneration

Milam A Brantley Jr et al. Am J Ophthalmol. 2007 Sep.

Abstract

Purpose: To determine whether the complement factor H (CFH) Y402H variant is associated with specific age-related macular degeneration (AMD) clinical phenotypes.

Design: Retrospective, case-control study.

Methods: One hundred and eighty-eight white subjects with AMD and 189 control subjects were genotyped for the T-to-C polymorphism in exon 9 of the CFH gene by restriction-fragment length analysis and deoxyribonucleic acid (DNA) sequencing using genomic DNA from mouthwash samples. AMD phenotypes were characterized by clinical examination, fundus photography, and fluorescein angiography.

Results: Heterozygosity for the at-risk genotype (TC) increased the likelihood for AMD 2.1-fold (95% confidence interval [CI], 1.3 to 3.3), whereas homozygosity for the genotype (CC) increased the likelihood for AMD 6.5-fold (95% CI, 3.4 to 12.5) in our population. The C allele was associated significantly with predominantly classic choroidal neovascularization (odds ratio [OR], 2.01; 95% CI, 1.34 to 3.30). Neovascular lesion size was similar among the three genotypes (P = .67).

Conclusions: The Y402H CFH variant carried a significantly increased risk for developing AMD in our population. Genotype and phenotype correlations regarding choroidal neovascular lesion type were observed.

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