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 primary angle closure 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: primary angle closure glaucoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

CC Khor, T Do, H Jia, M Nakano, R George, K Abu-Amero, R Duvesh, LJ Chen, Z Li, ME Nongpiur, SA Perera, C Qiao, HT Wong, H Sakai, M Barbosa de Melo, MC Lee, AS Chan, Y Azhany, TL Dao, Y Ikeda, RA Perez-Grossmann, T Zarnowski, AC Day, JB Jonas, PO Tam, TA Tran, H Ayub, F Akhtar, S Micheal, PT Chew, LA Aljasim, T Dada, TT Luu, MS Awadalla, N Kitnarong, B Wanichwecharungruang, YY Aung, J Mohamed-Noor, S Vijayan, S Sarangapani, R Husain, A Jap, M Baskaran, D Goh, DH Su, H Wang, VK Yong, LW Yip, TB Trinh, M Makornwattana, TT Nguyen, EU Leuenberger, KH Park, WA Wiyogo, RS Kumar, C Tello, Y Kurimoto, SS Thapa, K Pathanapitoon, JF Salmon, YH Sohn, A Fea, M Ozaki, JS Lai, V Tantisevi, CC Khaing, T Mizoguchi, S Nakano, CY Kim, G Tang, S Fan, R Wu, H Meng, TT Nguyen, TD Tran, M Ueno, JM Martinez, N Ramli, YM Aung, RD Reyes, SA Vernon, SK Fang, Z Xie, XY Chen, JN Foo, KS Sim, TT Wong, DT Quek, R Venkatesh, S Kavitha, SR Krishnadas, N Soumittra, B Shantha, BA Lim, J Ogle, JP de Vasconcellos, VP Costa, RY Abe, BB de Souza, CC Sng, MC Aquino, E Kosior-Jarecka, GB Fong, VC Tamanaja, R Fujita, Y Jiang, N Waseem, S Low, HN Pham, S Al-Shahwan, ER Craven, MI Khan, R Dada, K Mohanty, MA Faiq, AW Hewitt, KP Burdon, EH Gan, A Prutthipongsit, T Patthanathamrongkasem, MA Catacutan, IR Felarca, CS Liao, E Rusmayani, VW Istiantoro, G Consolandi, G Pignata, C Lavia, P Rojanapongpun, L Mangkornkanokpong, S Chansangpetch, JC Chan, BN Choy, JW Shum, HM Than, KT Oo, AT Han, VH Yong, XY Ng, SR Goh, YF Chong, ML Hibberd, M Seielstad, E Png, SJ Dunstan, NV Chau, J Bei, YX Zeng, A Karkey, B Basnyat, F Pasutto, D Paoli, P Frezzotti, JJ Wang, P Mitchell, JH Fingert, RR Allingham, MA Hauser, ST Lim, SH Chew, RP Ebstein, A Sakuntabhai, KH Park, J Ahn, G Boland, H Snippe, R Stead, R Quino, SN Zaw, U Lukasik, R Shetty, M Zahari, HW Bae, NL Oo, T Kubota, A Manassakorn, WL Ho, L Dallorto, YH Hwang, CA Kiire, M Kuroda, ZE Djamal, JI Peregrino, A Ghosh, JW Jeoung, TS Hoan, N Srisamran, T Sandragasu, SH Set, VH Doan, SS Bhattacharya, CL Ho, DT Tan, R Sihota, SC Loon, K Mori, S Kinoshita, AI Hollander, R Qamar, YX Wang, YY Teo, ES Tai, C Hartleben-Matkin, D Lozano-Giral, SM Saw, CY Cheng, JC Zenteno, CP Pang, HT Bui, O Hee, JE Craig, DP Edward, M Yonahara, JM Neto, ML Guevara-Fujita, L Xu, R Ritch, AT Liza-Sharmini, TY Wong, S Al-Obeidan, NH Do, P Sundaresan, CC Tham, PJ Foster, L Vijaya, K Tashiro, EN Vithana, N Wang, T Aung

TITLE:

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

JOURNAL:

Nature genetics May 2016, Vol 48, pp. 556-62

ABSTRACT:

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG. PUBMED: 27064256
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