Hua Bai1, Hui Liu2, Juan Wang3, Guohui Ling4, Yifei Huang4. 1. Department of Ophthalmology, Chinese PLA General Hospital Beijing 100853, China ; Department of Ophthalmology, General Hospital of Beijing Command of PLA Beijing 100700, China. 2. Department of Emergency, General Hospital of Beijing Command of PLA Beijing 100700, China. 3. Department of Medical, General Hospital of Beijing Command of PLA Beijing 100700, China. 4. Department of Ophthalmology, Chinese PLA General Hospital Beijing 100853, China.
Abstract
BACKGROUND: Epidemiological studies provide evidence of a genetic basis for primary angle closure glaucoma (PACG), and genome-wide association studies (GWAS) have identified various candidate genes as susceptibility loci. However, different results produced by previous studies make the role of a common genetic variant in the COL11A1 gene (rs3753841) remains elusive. Thus, we carried out a meta-analysis, attempting to determine the association of rs3753841 with PACG. METHODS: Potentially relevant studies were identified by systematical computer-based searches. Selection of eligible studies was undertaken by two investigators according to inclusion criteria. The DerSimonian and Laird's method was performed to estimate pooled odds ratios (risk of PACG) under distinct genetic models. Heterogeneity was measured using the chi-square-based Q statistic test and I(2) metric. RESULTS: We found a significant association of COL11A1 rs3753841 with PACG among 26,365 subjects (5,594 cases and 20,771 controls) with Asian or Caucasian ancestry derived from a total of 15 studies. The association was more pronounced in individuals with the GG genotype (GG vs AA: odds ratio 1.26, 95% confidence interval 1.13-1.41; GG vs GA + AA: odds ratio 1.24, 95% confidence interval 1.12-1.38). In the stratified analyses, the statistical significance was retailed in Asians and the studies without Hardy-Weinberg equilibrium. CONCLUSION: Our meta-analysis including the large-scale study suggest that COL11A1 variant rs3753841 may confer higher susceptibility to PACG and provide additional insight into the mechanisms that underlie this most common subtype of glaucoma.
BACKGROUND: Epidemiological studies provide evidence of a genetic basis for primary angle closure glaucoma (PACG), and genome-wide association studies (GWAS) have identified various candidate genes as susceptibility loci. However, different results produced by previous studies make the role of a common genetic variant in the COL11A1 gene (rs3753841) remains elusive. Thus, we carried out a meta-analysis, attempting to determine the association of rs3753841 with PACG. METHODS: Potentially relevant studies were identified by systematical computer-based searches. Selection of eligible studies was undertaken by two investigators according to inclusion criteria. The DerSimonian and Laird's method was performed to estimate pooled odds ratios (risk of PACG) under distinct genetic models. Heterogeneity was measured using the chi-square-based Q statistic test and I(2) metric. RESULTS: We found a significant association of COL11A1rs3753841 with PACG among 26,365 subjects (5,594 cases and 20,771 controls) with Asian or Caucasian ancestry derived from a total of 15 studies. The association was more pronounced in individuals with the GG genotype (GG vs AA: odds ratio 1.26, 95% confidence interval 1.13-1.41; GG vs GA + AA: odds ratio 1.24, 95% confidence interval 1.12-1.38). In the stratified analyses, the statistical significance was retailed in Asians and the studies without Hardy-Weinberg equilibrium. CONCLUSION: Our meta-analysis including the large-scale study suggest that COL11A1 variant rs3753841 may confer higher susceptibility to PACG and provide additional insight into the mechanisms that underlie this most common subtype of glaucoma.
Authors: Eranga N Vithana; Chiea-Chuen Khor; Chunyan Qiao; Ningli Wang; Tin Aung; Monisha E Nongpiur; Ronnie George; Li-Jia Chen; Tan Do; Khaled Abu-Amero; Chor Kai Huang; Sancy Low; Liza-Sharmini A Tajudin; Shamira A Perera; Ching-Yu Cheng; Liang Xu; Hongyan Jia; Ching-Lin Ho; Kar Seng Sim; Ren-Yi Wu; Clement C Y Tham; Paul T K Chew; Daniel H Su; Francis T Oen; Sripriya Sarangapani; Nagaswamy Soumittra; Essam A Osman; Hon-Tym Wong; Guangxian Tang; Sujie Fan; Hailin Meng; Dao T L Huong; Hua Wang; Bo Feng; Mani Baskaran; Balekudaru Shantha; Vedam L Ramprasad; Govindasamy Kumaramanickavel; Sudha K Iyengar; Alicia C How; Kelvin Y Lee; Theru A Sivakumaran; Victor H K Yong; Serena M L Ting; Yang Li; Ya-Xing Wang; Wan-Ting Tay; Xueling Sim; Raghavan Lavanya; Belinda K Cornes; Ying-Feng Zheng; Tina T Wong; Seng-Chee Loon; Vernon K Y Yong; Naushin Waseem; Azhany Yaakub; Kee-Seng Chia; R Rand Allingham; Michael A Hauser; Dennis S C Lam; Martin L Hibberd; Shomi S Bhattacharya; Mingzhi Zhang; Yik Ying Teo; Donald T Tan; Jost B Jonas; E-Shyong Tai; Seang-Mei Saw; Do Nhu Hon; Saleh A Al-Obeidan; Jianjun Liu; Tran Nguyen Bich Chau; Cameron P Simmons; Jin-Xin Bei; Yi-Xin Zeng; Paul J Foster; Lingam Vijaya; Tien-Yin Wong; Chi-Pui Pang Journal: Nat Genet Date: 2012-08-26 Impact factor: 38.330
Authors: Allan J Richards; Gregory S Fincham; Annie McNinch; David Hill; Arabella V Poulson; Bruce Castle; Melissa M Lees; Anthony T Moore; John D Scott; Martin P Snead Journal: J Med Genet Date: 2013-08-06 Impact factor: 6.318