HTRA1 variant increases risk to neovascular age-related macular degeneration in Chinese population

Abstract

Age-related macular degeneration (AMD) is a leading cause of irreversible visual impairment in the world. Advanced AMD can be divided into wet AMD (choroidal neovascularization) and dry AMD (geographic atrophy, GA). Drusen is characterized by deposits in the macula without visual loss and is an early AMD sign in the Caucasian population. rs11200638 in the promoter of HTRA1 has recently been shown to increases the risk for wet AMD in both Caucasian and Hong Kong Chinese populations. In order to replicate these results in a different cohort, we genotyped rs11200638 for 164 Chinese patients (90 wet AMD and 74 drusen) and 106 normal controls in a Han Mainland Chinese cohort. The genotypes were compared using chi square analysis for an additive allelic model. rs11200638 was significantly associated with wet AMD (p=5.00x10(-12)). Unlike in the Caucasian population, the risk allele of rs11200638 was not associated with drusen in our Chinese population. These findings confirm the association of HTRA1 with wet AMD.

Association of Genetic Polymorphisms and Age-Related Macular Degeneration in Chinese Population

“…13,31,35 However, some other studies in Chinese populations revealed much higher ORs. 9,10,36,37 DeWan et al reported that individuals with the risk-associated genotype were estimated to have a likelihood of wet AMD developing around 10 times (OR homo ¼ 11.14 for rs10490924, OR homo ¼ 10.00 for rs11200638) that of individuals with the wild-type genotype. 9 Yang et al found that individuals with the homo risk genotype were around 10fold more likely to have AMD (OR homo ¼ 8.99 for rs10490924, OR homo ¼ 12.93 for rs11200638) than individuals without the risk genotype in a Han Chinese cohort.…”

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

“…However, two studies have suggested that there may be an association between treatment outcome with ranibizumab therapy and HTRA1 genetic variants for neovascular AMD [27,28]. rs10490924 and rs11200638 were in high linkage disequilibrium (LD) with each other (D´ > 0.98) [12,29]. Therefore, they might not inf luence the treatment outcome independently.…”

A Genetic Variant in theSKIV2LGene Is Significantly Associated With Age-Related Macular Degeneration in a Han Chinese Population

“…All participants underwent a standard examination protocol, as previously described. 18,23,35 Copyright 2013 The Association for Research in Vision and Ophthalmology, Inc. www.iovs.org j ISSN: 1552-5783…”