1. Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
- Author
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Vithana, EN, Khor, CC, Qiao, C, Nongpiur, ME, George, R, Chen, LJ, Do, T, Abu-Amero, K, Huang, CK, Low, S, Tajudin, LSA, Perera, SA, Cheng, CY, Xu, L, Jia, H, Ho, CL, Sim, KS, Wu, RY, Tham, CCY, Chew, PTK, Su, DH, Oen, FT, Sarangapani, S, Soumittra, N, Osman, EA, Wong, HT, Tang, G, Fan, S, Meng, H, Huong, DTL, Wang, H, Feng, B, Baskaran, M, Shantha, B, Ramprasad, VL, Kumaramanickavel, G, Iyengar, SK, How, AC, Lee, KY, Sivakumaran, TA, Yong, VHK, Ting, SML, Li, Y, Wang, YX, Tay, WT, Sim, X, Lavanya, R, Cornes, BK, Zheng, YF, Wong, TT, Loon, SC, Yong, VKY, Waseem, N, Yaakub, A, Chia, KS, Rand Allingham, R, Hauser, MA, Lam, DSC, Hibberd, ML, Bhattacharya, SS, Zhang, M, Teo, YY, Tan, DT, Jonas, JB, Tai, ES, Saw, SM, Hon, DN, Al-Obeidan, SA, Liu, J, Chau, TNB, Simmons, CP, Bei, JX, Zeng, YX, Foster, PJ, Vijaya, L, and Wong, TY
- Subjects
medicine.medical_specialty ,Population ,Glaucoma ,Genome-wide association study ,Biology ,Collagen Type XI ,Polymorphism, Single Nucleotide ,Article ,Polymorphism (computer science) ,Epidemiology ,Protein D-Aspartate-L-Isoaspartate Methyltransferase ,Genetics ,medicine ,Humans ,Stickler syndrome ,Genetic Predisposition to Disease ,education ,education.field_of_study ,Principal Component Analysis ,Case-control study ,Odds ratio ,medicine.disease ,Repressor Proteins ,Logistic Models ,Genetic Loci ,Case-Control Studies ,Carrier Proteins ,Glaucoma, Angle-Closure ,Genome-Wide Association Study - Abstract
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. © 2012 Nature America, Inc. All rights reserved.
- Published
- 2012