Polygenic Risk Score Improves Cataract Prediction in East Asian Population
學年 111
學期 1
出版(發表)日期 2022-08-08
作品名稱 Polygenic Risk Score Improves Cataract Prediction in East Asian Population
著者 Chih-Chien Hsu; Hao-Kai Chuang; Yu-Jer Hsiao; Yuan-Chi Teng; Pin-Hsuan Chiang; Yu-Jun Wang; Ting-Yi Lin; Ping-Hsing Tsai; Chang-Chi Weng; Tai-Chi Lin; De-Kuang Hwang; Ai-Ru Hsieh
著錄名稱、卷期、頁數 Biomedicines 10(8), 1920
摘要 Cataracts, characterized by crystalline lens opacities in human eyes, is the leading cause of blindness globally. Due to its multifactorial complexity, the molecular mechanisms remain poorly understood. Larger cohorts of genome-wide association studies (GWAS) are needed to investigate cataracts’ genetic basis. In this study, a GWAS was performed on the largest Han population to date, analyzing a total of 7079 patients and 13,256 controls from the Taiwan Biobank (TWB) 2.0 cohort. Two cataract-associated SNPs with an adjustment of p < 1 × 10−7 in the older groups and nine SNPs with an adjustment of p < 1 × 10−6 in the younger group were identified. Except for the reported AGMO in animal models, most variations, including rs74774546 in GJA1 and rs237885 in OXTR, were not identified before this study. Furthermore, a polygenic risk score (PRS) was created for the young and old populations to identify high-risk cataract individuals, with areas under the receiver operating curve (AUROCs) of 0.829 and 0.785, respectively, after covariate adjustments. Younger individuals had 17.45 times the risk while older people had 10.97 times the risk when comparing individuals in the highest and lowest PRS quantiles. Validation analysis on an independent TWB1.0 cohort revealed AUROCs of 0.744 and 0.659.
關鍵字 cataract;genome-wide association studies;polygenic risk score;Asian population;biobank;retrospective study
語言 en
ISSN 2227-9059
期刊性質 國外
收錄於 SCI
通訊作者 Ai-Ru Hsieh(謝璦如)
國別 CHE
出版型式 ,電子版

機構典藏連結 ( http://tkuir.lib.tku.edu.tw:8080/dspace/handle/987654321/123296 )