Literature DB >> 22922875

Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.

Eranga N Vithana1,2, Chiea-Chuen Khor1,2,3,4,5,6, Chunyan Qiao7, Ningli Wang7, Tin Aung1,2, Monisha E Nongpiur1,2, Ronnie George8, Li-Jia Chen9, Tan Do10, Khaled Abu-Amero11,12, Chor Kai Huang13, Sancy Low14, Liza-Sharmini A Tajudin15, Shamira A Perera1, Ching-Yu Cheng1,2,6, Liang Xu16, Hongyan Jia7, Ching-Lin Ho1, Kar Seng Sim4, Ren-Yi Wu1,17, Clement C Y Tham9, Paul T K Chew2, Daniel H Su1, Francis T Oen1, Sripriya Sarangapani8, Nagaswamy Soumittra8, Essam A Osman11, Hon-Tym Wong18, Guangxian Tang19, Sujie Fan20, Hailin Meng21, Dao T L Huong10, Hua Wang7, Bo Feng7, Mani Baskaran1, Balekudaru Shantha8, Vedam L Ramprasad8, Govindasamy Kumaramanickavel8, Sudha K Iyengar22, Alicia C How1, Kelvin Y Lee1, Theru A Sivakumaran22, Victor H K Yong1, Serena M L Ting1, Yang Li15, Ya-Xing Wang16, Wan-Ting Tay1, Xueling Sim23, Raghavan Lavanya1, Belinda K Cornes1, Ying-Feng Zheng1,2, Tina T Wong1, Seng-Chee Loon2, Vernon K Y Yong18, Naushin Waseem14, Azhany Yaakub15, Kee-Seng Chia6, R Rand Allingham24, Michael A Hauser24, Dennis S C Lam9, Martin L Hibberd3,6, Shomi S Bhattacharya14, Mingzhi Zhang13, Yik Ying Teo4,6,23, Donald T Tan1,2, Jost B Jonas25, E-Shyong Tai6,26,27, Seang-Mei Saw1,6, Do Nhu Hon10, Saleh A Al-Obeidan11, Jianjun Liu4,6, Tran Nguyen Bich Chau28, Cameron P Simmons28,29, Jin-Xin Bei30,31, Yi-Xin Zeng30,31,32, Paul J Foster14, Lingam Vijaya8, Tien-Yin Wong1,2,6, Chi-Pui Pang9.   

Abstract

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.

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Year:  2012        PMID: 22922875      PMCID: PMC4333205          DOI: 10.1038/ng.2390

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  56 in total

1.  The heritability and sibling risk of angle closure in Asians.

Authors:  Nishani Amerasinghe; Jian Zhang; Anbupalam Thalamuthu; Mingguang He; Eranga N Vithana; Ananth Viswanathan; Tien Y Wong; Paul J Foster; Tin Aung
Journal:  Ophthalmology       Date:  2010-10-29       Impact factor: 12.079

2.  Complement factor H polymorphism in age-related macular degeneration.

Authors:  Robert J Klein; Caroline Zeiss; Emily Y Chew; Jen-Yue Tsai; Richard S Sackler; Chad Haynes; Alice K Henning; John Paul SanGiovanni; Shrikant M Mane; Susan T Mayne; Michael B Bracken; Frederick L Ferris; Jurg Ott; Colin Barnstable; Josephine Hoh
Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

3.  Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.

Authors:  M I Othman; S A Sullivan; G L Skuta; D A Cockrell; H M Stringham; C A Downs; A Fornés; A Mick; M Boehnke; D Vollrath; J E Richards
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

4.  A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.

Authors:  A J Richards; J R Yates; R Williams; S J Payne; F M Pope; J D Scott; M P Snead
Journal:  Hum Mol Genet       Date:  1996-09       Impact factor: 6.150

Review 5.  Clinical and Molecular genetics of Stickler syndrome.

Authors:  M P Snead; J R Yates
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

6.  Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.

Authors:  Olof H Sundin; Gregory S Leppert; Eduardo D Silva; Jun-Ming Yang; Sharola Dharmaraj; Irene H Maumenee; Luisa Coutinho Santos; Cameron F Parsa; Elias I Traboulsi; Karl W Broman; Cathy Dibernardo; Janet S Sunness; Jeffrey Toy; Ethan M Weinberg
Journal:  Proc Natl Acad Sci U S A       Date:  2005-06-23       Impact factor: 11.205

7.  Genome-wide association study identifies susceptibility loci for IgA nephropathy.

Authors:  Ali G Gharavi; Krzysztof Kiryluk; Murim Choi; Yifu Li; Ping Hou; Jingyuan Xie; Simone Sanna-Cherchi; Clara J Men; Bruce A Julian; Robert J Wyatt; Jan Novak; John C He; Haiyan Wang; Jicheng Lv; Li Zhu; Weiming Wang; Zhaohui Wang; Kasuhito Yasuno; Murat Gunel; Shrikant Mane; Sheila Umlauf; Irina Tikhonova; Isabel Beerman; Silvana Savoldi; Riccardo Magistroni; Gian Marco Ghiggeri; Monica Bodria; Francesca Lugani; Pietro Ravani; Claudio Ponticelli; Landino Allegri; Giuliano Boscutti; Giovanni Frasca; Alessandro Amore; Licia Peruzzi; Rosanna Coppo; Claudia Izzi; Battista Fabio Viola; Elisabetta Prati; Maurizio Salvadori; Renzo Mignani; Loreto Gesualdo; Francesca Bertinetto; Paola Mesiano; Antonio Amoroso; Francesco Scolari; Nan Chen; Hong Zhang; Richard P Lifton
Journal:  Nat Genet       Date:  2011-03-13       Impact factor: 38.330

8.  A map of human genome variation from population-scale sequencing.

Authors:  Gonçalo R Abecasis; David Altshuler; Adam Auton; Lisa D Brooks; Richard M Durbin; Richard A Gibbs; Matt E Hurles; Gil A McVean
Journal:  Nature       Date:  2010-10-28       Impact factor: 49.962

9.  ST18 is a breast cancer tumor suppressor gene at human chromosome 8q11.2.

Authors:  Burkhard Jandrig; Susanne Seitz; Bernd Hinzmann; Wolfgang Arnold; Burkhard Micheel; Konrad Koelble; Reiner Siebert; Arnfried Schwartz; Karin Ruecker; Peter M Schlag; Siegfried Scherneck; André Rosenthal
Journal:  Oncogene       Date:  2004-12-09       Impact factor: 9.867

10.  Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke.

Authors:  Céline Bellenguez; Steve Bevan; Andreas Gschwendtner; Chris C A Spencer; Annette I Burgess; Matti Pirinen; Caroline A Jackson; Matthew Traylor; Amy Strange; Zhan Su; Gavin Band; Paul D Syme; Rainer Malik; Joanna Pera; Bo Norrving; Robin Lemmens; Colin Freeman; Renata Schanz; Tom James; Deborah Poole; Lee Murphy; Helen Segal; Lynelle Cortellini; Yu-Ching Cheng; Daniel Woo; Michael A Nalls; Bertram Müller-Myhsok; Christa Meisinger; Udo Seedorf; Helen Ross-Adams; Steven Boonen; Dorota Wloch-Kopec; Valerie Valant; Julia Slark; Karen Furie; Hossein Delavaran; Cordelia Langford; Panos Deloukas; Sarah Edkins; Sarah Hunt; Emma Gray; Serge Dronov; Leena Peltonen; Solveig Gretarsdottir; Gudmar Thorleifsson; Unnur Thorsteinsdottir; Kari Stefansson; Giorgio B Boncoraglio; Eugenio A Parati; John Attia; Elizabeth Holliday; Chris Levi; Maria-Grazia Franzosi; Anuj Goel; Anna Helgadottir; Jenefer M Blackwell; Elvira Bramon; Matthew A Brown; Juan P Casas; Aiden Corvin; Audrey Duncanson; Janusz Jankowski; Christopher G Mathew; Colin N A Palmer; Robert Plomin; Anna Rautanen; Stephen J Sawcer; Richard C Trembath; Ananth C Viswanathan; Nicholas W Wood; Bradford B Worrall; Steven J Kittner; Braxton D Mitchell; Brett Kissela; James F Meschia; Vincent Thijs; Arne Lindgren; Mary Joan Macleod; Agnieszka Slowik; Matthew Walters; Jonathan Rosand; Pankaj Sharma; Martin Farrall; Cathie L M Sudlow; Peter M Rothwell; Martin Dichgans; Peter Donnelly; Hugh S Markus
Journal:  Nat Genet       Date:  2012-02-05       Impact factor: 38.330

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  64 in total

1.  Associations of polymorphisms of rs1015213 with primary angle closure glaucoma-recent evidence and a meta-analysis.

Authors:  Liang Liao; Xiaohong Gong; Ming Lu; Xiaoling Yan; Yanting Xia; Qiping Wei
Journal:  Int J Clin Exp Med       Date:  2015-07-15

2.  Association study in a South Indian population supports rs1015213 as a risk factor for primary angle closure.

Authors:  Roopam Duvesh; Anshuman Verma; Rengaraj Venkatesh; Srinivasan Kavitha; Pradeep Y Ramulu; Robert Wojciechowski; Periasamy Sundaresan
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-08-19       Impact factor: 4.799

3.  AUTOPHAGY, MITOCHONDRIAL DYNAMICS AND RETINAL DISEASES.

Authors:  Talia R Kaden; Wei Li
Journal:  Asia Pac J Ophthalmol (Phila)       Date:  2013 Sep-Oct

4.  Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.

Authors:  Thomas J Hoffmann; Hua Tang; Timothy A Thornton; Bette Caan; Mary Haan; Amy E Millen; Fridtjof Thomas; Neil Risch
Journal:  Hum Mol Genet       Date:  2014-07-15       Impact factor: 6.150

5.  Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population.

Authors:  Xin Jin; Da-Jiang Wang; Ling-Hui Qu; Bao-Ke Hou; Yan Gong; Wei-Wei Xu
Journal:  Genet Test Mol Biomarkers       Date:  2015-01

Review 6.  Development of gene and stem cell therapy for ocular neurodegeneration.

Authors:  Jing-Xue Zhang; Ning-Li Wang; Qing-Jun Lu
Journal:  Int J Ophthalmol       Date:  2015-06-18       Impact factor: 1.779

Review 7.  The genetic mechanisms of primary angle closure glaucoma.

Authors:  D F Ahram; W L Alward; M H Kuehn
Journal:  Eye (Lond)       Date:  2015-07-24       Impact factor: 3.775

8.  A common genetic variant as an effect modifier for primary angle closure glaucoma.

Authors:  Hua Bai; Hui Liu; Juan Wang; Guohui Ling; Yifei Huang
Journal:  Int J Clin Exp Med       Date:  2015-01-15

9.  Automatic glaucoma diagnosis through medical imaging informatics.

Authors:  Jiang Liu; Zhuo Zhang; Damon Wing Kee Wong; Yanwu Xu; Fengshou Yin; Jun Cheng; Ngan Meng Tan; Chee Keong Kwoh; Dong Xu; Yih Chung Tham; Tin Aung; Tien Yin Wong
Journal:  J Am Med Inform Assoc       Date:  2013-03-28       Impact factor: 4.497

Review 10.  Are we ready for genetic testing for primary open-angle glaucoma?

Authors:  Anthony P Khawaja; Ananth C Viswanathan
Journal:  Eye (Lond)       Date:  2018-01-30       Impact factor: 3.775

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