Association between Complement Factor H Gene Polymorphisms and Neovascular Age-Related Macular Degeneration in Koreans

Abstract

In Korean subjects, CFH polymorphism appears to be a considerable hereditary contributor to exudative AMD. Y402H polymorphism which has been suggested to be a major risk factor of AMD in Caucasians was found to be only marginally associated with exudative AMD with low frequency, whereas three adjacent SNPs in the CFH gene were significantly associated with AMD in Koreans.

Association of Genetic Polymorphisms with Response to Bevacizumab for Neovascular Age-related Macular Degeneration in the Chinese Population

“…CFH rs800292 might be both associated with AMD and bevacizumab treatment in Asian populations. The previous studies proved that rs800292 was a hereditary contributor to AMD in Asian populations [11,25,26]. The fact that in this study changes in VAS were significantly larger in rs800292 TT and CT genotypes than in the CC genotype suggests that genetic factors may play an important role in the efficacy of bevacizumab intervention for neovascular AMD.…”

Age-related macular degeneration and the complement system

“…An association has also been noted in Hispanics in the USA (Klein et al 2008b), although another study found an association with AMD progression and not AMD prevalence in this population group (Tedeschi-Blok et al 2007). No association has been identified in Japanese populations (Fuse et al 2006;Gotoh et al 2006;Uka et al 2006), and a marginal association is seen in Koreans (Kim et al 2008b). Other CFH SNPs appear to be associated with AMD in Chinese (Ng et al 2008;Liu et al 2010) and Japanese (Okamoto et al 2006;Mori et al 2007) populations.…”

Polypoidal Choroidal Vasculopathy: Clinical Features and Genetic Predisposition

“…Recently, large population studies and meta-analyses came to identify the CFH Y402H variant as a significant genetic risk factor in Asian AMD [20,90], although the susceptibility conferred by the Y402H variant may not translate across ethnic lines. However, other multiple CFH variants have been shown to be associated with AMD in Asians [89,91,92,93]. In particular, the CFH I62V variant was significantly associated with AMD (allelic OR = 1.85, 95% CI = 1.63-2.09) in a meta-analysis of Asian cohorts although no significant association of this SNP was established with AMD in Caucasian populations [91].…”