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


Khor, CC and Do, T and Jia, H and Nakano, M and George, R and Abu-Amero, K and Duvesh, R and Chen, LJ and Li, Z and Nongpiur, ME and Perera, SA and Qiao, C and Wong, H-T and Sakai, H and de Melo, MB and Lee, M-C and Chan, AS and Azhany, Y and Dao, TLH and Ikeda, Y and Perez-Grossmann, RA and Zarnowski, T and Day, AC and Jonas, JB and Tam, POS and Tran, TA and Ayub, H and Akhtar, F and Micheal, S and Chew, PTK and Aljasim, LA and Dada, T and Luu, TT and Awadalla, MS and Kitnarong, N and Wanichwecharungruang, B and Aung, YY and Mohamed-Noor, J and Vijayan, S and Sarangapani, S and Husain, R and Jap, A and Baskaran, M and Goh, D and Su, DH and Wang, H and Yong, VK and Yip, LW and Trinh, TB and Makornwattana, M and Nguyen, TT and Leuenberger, EU and Park, K-H and Wiyogo, WA and Kumar, RS and Tello, C and Kurimoto, Y and Thapa, SS and Pathanapitoon, K and Salmon, JF and Sohn, YH and Fea, A and Ozaki, M and Lai, JSM and Tantisevi, V and Khaing, CC and Mizoguchi, T and Nakano, S and Kim, C-Y and Tang, G and Fan, S and Wu, R and Meng, H and Nguyen, TTG and Tran, TD and Ueno, M and Martinez, JM and Ramli, N and Aung, YM and Reyes, RD and Vernon, SA and Fang, SK and Xie, Z and Chen, XY and Foo, JN and Sim, KS and Wong, TT and Quek, DT and Venkatesh, R and Kavitha, S and Krishnadas, SR and Soumittra, N and Shantha, B and Lim, B-A and Ogle, J and de Vasconcellos, JPC and Costa, VP and Abe, RY and de Souza, BB and Sng, CC and Aquino, MC and Kosior-Jarecka, E and Fong, GB and Tamanaja, VC and Fujita, R and Jiang, Y and Waseem, N and Low, S and Pham, HN and Al-Shahwan, S and Craven, ER and Khan, MI and Dada, R and Mohanty, K and Faiq, MA and Hewitt, AW and Burdon, KP and Gan, EH and Prutthipongsit, A and Patthanathamrongkasem, T and Catacutan, MAT and Felarca, IR and Liao, CS and Rusmayani, E and Istiantoro, VW and Consolandi, G and Pignata, G and Lavia, C and Rojanapongpun, P and Mangkornkanokpong, L and Chansangpetch, S and Chan, JCH and Choy, BNK and Shum, JWH and Than, HM and Oo, KT and Han, AT and Yong, VH and Ng, X-Y and Goh, SR and Chong, YF and Hibberd, ML and Seielstad, M and Png, E and Dunstan, SJ and Chau, NVV and Bei, J and Zeng, YX and Karkey, A and Basnyat, B and Pasutto, F and Paoli, D and Frezzotti, P and Wang, JJ and Mitchell, P and Fingert, JH and Allingham, RR and Hauser, MA and Lim, ST and Chew, SH and Ebstein, RP and Sakuntabhai, A and Park, KH and Ahn, J and Boland, G and Snippe, H and Stead, R and Quino, R and Zaw, SN and Lukasik, U and Shetty, R and Zahari, M and Bae, HW and Oo, NL and Kubota, T and Manassakorn, A and Ho, WL and Dallorto, L and Hwang, YH and Kiire, CA and Kuroda, M and Djamal, ZE and Peregrino, JIM and Ghosh, A and Jeoung, JW and Hoan, TS and Srisamran, N and Sandragasu, T and Set, SH and Doan, VH and Bhattacharya, SS and Ho, C-L and Tan, DT and Sihota, R and Loon, S-C and Mori, K and Kinoshita, S and den Hollander, AI and Qamar, R and Wang, Y-X and Teo, YY and Tai, E-S and Hartleben-Matkin, C and Lozano-Giral, D and Saw, SM and Cheng, C-Y and Zenteno, JC and Pang, CP and Bui, HTT and Hee, O and Craig, JE and Edward, DP and Yonahara, M and Neto, JM and Guevara-Fujita, ML and Xu, L and Ritch, R and Liza-Sharmini, AT and Wong, TY and Al-Obeidan, S and Do, NH and Sundaresan, P and Tham, CC and Foster, PJ and Vijaya, L and Tashiro, K and Vithana, EN and Wang, N and Aung, T, Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma, Nature Genetics, 48, (5) pp. 556-562. ISSN 1061-4036 (2016) [Refereed Article]

Copyright Statement

Copyright 2016 Nature America, Inc.

DOI: doi:10.1038/ng.3540


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)1, providing new insights into the biology of PACG.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:111106
Year Published:2016
Web of Science® Times Cited:96
Deposited By:Menzies Institute for Medical Research
Deposited On:2016-08-30
Last Modified:2022-08-25

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