Clinical Phenotype Aociated with the Complement Factor H Y402H Variant in Age-related Macular Degeneration Original Reearch Article

Purpoe To determine whether the complement factor H (CFH) Y402H variant i aociated with pecific age-related macular degeneration (AMD) clinical phenotype. Deign Retropective, cae-control tudy. Method One hundred and eighty-eight white ubject with AMD and 189 control ubject were genotyped for the T-to-C polymorphim in exon 9 of the CFH gene by retriction-fragment length analyi and deoxyribonucleic acid (DNA) equencing uing genomic DNA from mouthwah ample. AMD phenotype were characterized by clinical examination, fundu photography, and fluorecein angiography. Reult Heterozygoity for the at-rik genotype (TC) increaed the likelihood for AMD 2.1-fold (95% confidence interval [CI], 1.3 to 3.3), wherea homozygoity for the genotype (CC) increaed the likelihood for AMD 6.5-fold (95% CI, 3.4 to 12.5) in our population. The C allele wa aociated ignificantly with predominantly claic choroidal neovacularization (odd ratio [OR], 2.01; 95% CI, 1.34 to 3.30). Neovacular leion ize wa imilar among the three genotype (P = .67). Concluion The Y402H CFH variant carried a ignificantly increaed rik for developing AMD in our population. Genotype and phenotype correlation regarding choroidal neovacular leion type were oberved.