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

• Published in: Vision research (Oxford) 2007-11, Vol.47 (24), p.3120-3123
• Main Authors: Lu, Fang, Hu, Jianbin, Zhao, Peiquan, Lin, Ying, Yang, Yang, Liu, Xiaoqi, Fan, Yingchuan, Chen, Bin, Liao, Shihuang, Du, Qiong, Lei, Chuntao, Cameron, D. Joshua, Zhang, Kang, Yang, Zhenglin
• Format: Article
• Language: English
• Subjects: Aged; AMD; Asian People - genetics; Biological and medical sciences; China; Chinese; Choroidal Neovascularization - genetics; Eye and associated structures. Visual pathways and centers. Vision; Fundamental and applied biological sciences. Psychology; Gene Frequency; Genetic Predisposition to Disease; High-Temperature Requirement A Serine Peptidase 1; HTRA1; Humans; Macular Degeneration - complications; Macular Degeneration - genetics; Medical sciences; Middle Aged; Ophthalmology; Retinal Drusen - etiology; Retinal Drusen - genetics; Retinopathies; Serine Endopeptidases - genetics; Vertebrates: nervous system and sense organs
• ISSN: 0042-6989; 1878-5646
• DOI: 10.1016/j.visres.2007.08.010

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 = 5.00 × 10 −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.