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

Publication ,  Journal Article
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, H-T; Wu, R ...
Published in: Nat Genet
May 2016

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.

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Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

May 2016

Volume

48

Issue

5

Start / End Page

556 / 562

Location

United States

Related Subject Headings

  • Male
  • Humans
  • Glaucoma, Angle-Closure
  • Genotype
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Loci
  • Gene Expression
  • Female
  • Developmental Biology
 

Citation

APA
Chicago
ICMJE
MLA
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Khor, C. C., Do, T., Jia, H., Nakano, M., George, R., Abu-Amero, K., … Aung, T. (2016). Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nat Genet, 48(5), 556–562. https://doi.org/10.1038/ng.3540
Khor, Chiea Chuen, Tan Do, Hongyan Jia, Masakazu Nakano, Ronnie George, Khaled Abu-Amero, Roopam Duvesh, et al. “Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.Nat Genet 48, no. 5 (May 2016): 556–62. https://doi.org/10.1038/ng.3540.
Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, et al. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nat Genet. 2016 May;48(5):556–62.
Khor, Chiea Chuen, et al. “Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.Nat Genet, vol. 48, no. 5, May 2016, pp. 556–62. Pubmed, doi:10.1038/ng.3540.
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 H-T, Sakai H, Barbosa de Melo M, Lee M-C, Chan AS, Azhany Y, Dao TLH, Ikeda Y, Perez-Grossmann RA, Zarnowski T, Day AC, Jonas JB, Tam POS, Tran TA, Ayub H, Akhtar F, Micheal S, Chew PTK, 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 K-H, Wiyogo WA, Kumar RS, Tello C, Kurimoto Y, Thapa SS, Pathanapitoon K, Salmon JF, Sohn YH, Fea A, Ozaki M, Lai JSM, Tantisevi V, Khaing CC, Mizoguchi T, Nakano S, Kim C-Y, Tang G, Fan S, Wu R, Meng H, Nguyen TTG, 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 B-A, Ogle J, de Vasconcellos JPC, 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 MAT, Felarca IR, Liao CS, Rusmayani E, Istiantoro VW, Consolandi G, Pignata G, Lavia C, Rojanapongpun P, Mangkornkanokpong L, Chansangpetch S, Chan JCH, Choy BNK, Shum JWH, Than HM, Oo KT, Han AT, Yong VH, Ng X-Y, Goh SR, Chong YF, Hibberd ML, Seielstad M, Png E, Dunstan SJ, Chau NVV, 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 JIM, Ghosh A, Jeoung JW, Hoan TS, Srisamran N, Sandragasu T, Set SH, Doan VH, Bhattacharya SS, Ho C-L, Tan DT, Sihota R, Loon S-C, Mori K, Kinoshita S, Hollander AID, Qamar R, Wang Y-X, Teo YY, Tai E-S, Hartleben-Matkin C, Lozano-Giral D, Saw SM, Cheng C-Y, Zenteno JC, Pang CP, Bui HTT, 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. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nat Genet. 2016 May;48(5):556–562.

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

May 2016

Volume

48

Issue

5

Start / End Page

556 / 562

Location

United States

Related Subject Headings

  • Male
  • Humans
  • Glaucoma, Angle-Closure
  • Genotype
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Loci
  • Gene Expression
  • Female
  • Developmental Biology