DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Glaucoma (primary angle closure). The EFO term glaucoma was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: glaucoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

EN Vithana, CC Khor, C Qiao, ME Nongpiur, R George, LJ Chen, T Do, K Abu-Amero, CK Huang, S Low, LS Tajudin, SA Perera, CY Cheng, L Xu, H Jia, CL Ho, KS Sim, RY Wu, CC Tham, PT Chew, DH Su, FT Oen, S Sarangapani, N Soumittra, EA Osman, HT Wong, G Tang, S Fan, H Meng, DT Huong, H Wang, B Feng, M Baskaran, B Shantha, VL Ramprasad, G Kumaramanickavel, SK Iyengar, AC How, KY Lee, TA Sivakumaran, VH Yong, SM Ting, Y Li, YX Wang, WT Tay, X Sim, R Lavanya, BK Cornes, YF Zheng, TT Wong, SC Loon, VK Yong, N Waseem, A Yaakub, KS Chia, RR Allingham, MA Hauser, DS Lam, ML Hibberd, SS Bhattacharya, M Zhang, YY Teo, DT Tan, JB Jonas, ES Tai, SM Saw, DN Hon, SA Al-Obeidan, J Liu, TN Chau, CP Simmons, JX Bei, YX Zeng, PJ Foster, L Vijaya, TY Wong, CP Pang, N Wang, T Aung

TITLE:

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

JOURNAL:

Nature genetics Oct 2012, Vol 44, pp. 1142-6

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. PUBMED: 22922875
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