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

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

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<p style="text-align:justify;">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 1,9...

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Main Authors: Vithana, E, Khor, C, Qiao, C, Nongpiur, M, George, R, Chen, L, Do, T, Abu-Amero, K, Huang, C, Low, S, Tajudin, L, Perera, S, Cheng, C, Xu, L, Jia, H, Ho, C, Sim, K, Wu, R, Tham, C, Chew, P, Su, D, Oen, F, Sarangapani, S, Soumittra, N, Osman, E, Wong, H, Tang, G, Fan, S, Meng, H, Huong, D, Wang, H, Feng, B, Baskaran, M, Shantha, B, Ramprasad, V, Kumaramanickavel, G, Iyengar, S, How, A, Lee, K, Sivakumaran, T, Yong, V, Ting, S, Li, Y, Wang, Y, Tay, W, Sim, X, Lavanya, R, Cornes, B, Zheng, Y, Wong, T, Loon, S, Waseem, N, Yaakub, A, Chia, K, Allingham, R, Hauser, M, Lam, D, Hibberd, M, Bhattacharya, S, Zhang, M, Teo, Y, Tan, D, Jonas, J, Tai, E, Saw, S, Hon, D, Al-Obeidan, S, Liu, J, Chau, T, Simmons, C, Bei, J, Zeng, Y, Foster, P, Vijaya, L, Pang, C, Wang, N, Aung, T
Format: Journal article
Language:English
Published: Springer Nature 2012
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Summary:<p style="text-align:justify;">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. </p>

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