Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.

Eranga N Vithana; Chiea-Chuen Khor; Chunyan Qiao; Monisha E Nongpiur; Ronnie George; Li-Jia Chen; Tan Do; Khaled Abu-Amero; Chor Kai Huang; Sancy Low; +69 more... Liza-Sharmini A Tajudin; Shamira A Perera; Ching-Yu Cheng; Liang Xu; Hongyan Jia; Ching-Lin Ho; Kar Seng Sim; Ren-Yi Wu; Clement CY Tham; Paul TK Chew; Daniel H Su; Francis T Oen; Sripriya Sarangapani; Nagaswamy Soumittra; Essam A Osman; Hon-Tym Wong; Guangxian Tang; Sujie Fan; Hailin Meng; Dao TL 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 HK Yong; Serena ML 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 KY Yong; Naushin Waseem; Azhany Yaakub; Kee-Seng Chia; R Rand Allingham; Michael A Hauser; Dennis SC 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; Ningli Wang; Tin Aung; (2012) Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nature genetics, 44 (10). pp. 1142-1146. ISSN 1061-4036 DOI: 10.1038/ng.2390
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Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.

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