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© Research
Publication : Nature genetics

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

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Nature genetics - 01 May 2016

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

Link to Pubmed [PMID] – 27064256

Link to DOI [DOI] – 10.1038/ng.3540

Nat. Genet. 2016 May; 48(5): 556-62

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.

https://pubmed.ncbi.nlm.nih.gov/27064256