title: A pilot exome-wide association study of age-related cataract in Koreans.
abstract: Age-related cataract (ARC) is the most common cause of visual impairment and blindness worldwide. A previous study reported that genetic factors could explain approximately 50% of the heritability of cataract. However, a genetic predisposition to ARC and the contributing factors have not yet been elucidated in the Korean population. In this study, we assessed the influence of genetic polymorphisms on the risk of ARC in Koreans, including 156 cataract cases and 138 healthy adults. We conducted an exome-wide association study using Illumina Human Exome-12v1.2 platform to screen 244,770 single nucleotide polymorphisms (SNPs). No SNPs reached exome-wide significance level of association (P < 1×10(-6)). B3GNT4 rs7136356 showed the most significant association with ARC (P = 6.54×10(-5)). Two loci (MUC16 and P2RY2) among the top 20 ARC-associated SNPs were recognized as probably linked to cataractogenesis. Functions of these genes were potentially related to regulating dehydration or homeostasis of the eyes, and showed a potential association with dry eye disease. This finding suggests that mucin- and dry eye disease-related genes may play a significant role in cataractogenesis. Our study provides insight into the genetic predisposition of ARC in Koreans. Additional studies with larger sample sizes are required to confirm the results of this study.
authors.affiliation: Center for Farmer's Safety and Health, Chungbuk National University Hospital, Cheongju, Chungbuk 28644, Republic of Korea.|Department of Preventive Medicine, College of Medicine, Chungbuk National University, Cheongju, Chungbuk 28644, Republic of Korea.
authors.forename: Sang-Yong
authors.initials: SY
authors.lastname: Eom
authors.affiliation: Center for Farmer's Safety and Health, Chungbuk National University Hospital, Cheongju, Chungbuk 28644, Republic of Korea.|Department of Preventive Medicine, College of Medicine, Chungbuk National University, Cheongju, Chungbuk 28644, Republic of Korea.
authors.forename: Dong-Hyuk
authors.initials: DH
authors.lastname: Yim
authors.affiliation: Department of Optometry, Daejeon Health Science College, Daejeon 34504, Republic of Korea.
authors.forename: Jung-Hyun
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Department of Ophthalmology, College of Medicine, Chungbuk National University, Cheongju 28644, Republic of Korea.
authors.forename: Joo-Byung
authors.initials: JB
authors.lastname: Chae
authors.affiliation: Center for Farmer's Safety and Health, Chungbuk National University Hospital, Cheongju, Chungbuk 28644, Republic of Korea.|Department of Preventive Medicine, College of Medicine, Chungbuk National University, Cheongju, Chungbuk 28644, Republic of Korea.
authors.forename: Yong-Dae
authors.initials: YD
authors.lastname: Kim
authors.affiliation: Center for Farmer's Safety and Health, Chungbuk National University Hospital, Cheongju, Chungbuk 28644, Republic of Korea.|Department of Preventive Medicine, College of Medicine, Chungbuk National University, Cheongju, Chungbuk 28644, Republic of Korea. kimheon@cbu.ac.kr.
authors.forename: Heon
authors.initials: H
authors.lastname: Kim
keywords: age-related cataract; dry eye disease; exome-wide association study; genetic predisposition; single nucleotide polymorphism