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 Anterior chamber depth. The EFO term anterior chamber depth measurement 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: anterior chamber depth measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

ME Nongpiur, CC Khor, H Jia, BK Cornes, LJ Chen, C Qiao, KS Nair, CY Cheng, L Xu, R George, D Tan, K Abu-Amero, SA Perera, M Ozaki, T Mizoguchi, Y Kurimoto, S Low, LS Tajudin, CL Ho, CC Tham, I Soto, PT Chew, HT Wong, B Shantha, M Kuroda, EA Osman, G Tang, S Fan, H Meng, H Wang, B Feng, VH Yong, SM Ting, Y Li, YX Wang, Z Li, R Lavanya, RY Wu, YF Zheng, DH Su, SC Loon, VK Yong, RR Allingham, MA Hauser, N Soumittra, VL Ramprasad, N Waseem, A Yaakub, KS Chia, G Kumaramanickavel, TT Wong, AC How, TN Chau, CP Simmons, JX Bei, YX Zeng, SS Bhattacharya, M Zhang, DT Tan, YY Teo, SA Al-Obeidan, DN Hon, ES Tai, SM Saw, PJ Foster, L Vijaya, JB Jonas, TY Wong, SW John, CP Pang, EN Vithana, N Wang, T Aung

TITLE:

ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.

JOURNAL:

PLoS genetics Mar 2014, Vol 10, pp. e1004089

ABSTRACT:

Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size =  -0.045 mm, P = 8.17 × 10(-9)). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06-1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45 × 10(-9); 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions. PUBMED: 24603532
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