A common variant near TGFBR3 is associated with primary open angle glaucoma

Zheng Li; R Rand Allingham; Masakazu Nakano; Liyun Jia; Yuhong Chen; Yoko Ikeda; Baskaran Mani; Li-Jia Chen; Changwon Kee; David F Garway-Heath; Sarangapani Sripriya; Nobuo Fuse; Khaled K Abu-Amero; Chukai Huang; Prasanthi Namburi; Kathryn Burdon; Shamira A Perera; Puya Gharahkhani; Ying Lin; Morio Ueno; Mineo Ozaki; Takanori Mizoguchi; Subbiah Ramasamy Krishnadas; Essam A Osman; Mei Chin Lee; Anita S Y Chan; Liza-Sharmini A Tajudin; Tan Do; Aurelien Goncalves; Pascal Reynier; Hong Zhang; Rupert Bourne; David Goh; David Broadway; Rahat Husain; Anil K Negi; Daniel H Su; Ching-Lin Ho; Augusto Azuara Blanco; Christopher K S Leung; Tina T Wong; Azhany Yakub; Yutao Liu; Monisha E Nongpiur; Jong Chul Han; Do Nhu Hon; Balekudaru Shantha; Bowen Zhao; Jinghong Sang; NiHong Zhang; Ryuichi Sato; Kengo Yoshii; Songhomita Panda-Jonas; Allison E Ashley Koch; Leon W Herndon; Sayoko E Moroi; Pratap Challa; Jia Nee Foo; Jin-Xin Bei; Yi-Xin Zeng; Cameron P Simmons; Tran Nguyen Bich Chau; Philomenadin Ferdinamarie Sharmila; Merwyn Chew; Blanche Lim; Pansy O S Tam; Elaine Chua; Xiao Yu Ng; Victor H K Yong; Yaan Fun Chong; Wee Yang Meah; Saravanan Vijayan; Sohn Seongsoo; Wang Xu; Yik Ying Teo; Jessica N Cooke Bailey; Jae H Kang; Jonathan L Haines; Ching Yu Cheng; Seang-Mei Saw; E-Shyong Tai; Julia E Richards; Robert Ritch; Douglas E Gaasterland; Louis R Pasquale; Jianjun Liu; Jost B Jonas; Dan Milea; Ronnie George; Saleh A Al-Obeidan; Kazuhiko Mori; Stuart Macgregor; Alex W Hewitt; Christopher A Girkin; Mingzhi Zhang; Periasamy Sundaresan; Lingam Vijaya; David A Mackey; Tien Yin Wong; Jamie E Craig; Xinghuai Sun; Shigeru Kinoshita; Janey L Wiggs; Chiea-Chuen Khor; Zhenglin Yang; Chi Pui Pang; Ningli Wang; Michael A Hauser; Kei Tashiro; Tin Aung; Eranga N Vithana; ICAARE-Glaucoma Consortium

doi:10.1093/hmg/ddv128

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A common variant near TGFBR3 is associated with primary open angle glaucoma

Journal article

Open access

Peer reviewed

A common variant near TGFBR3 is associated with primary open angle glaucoma

Zheng Li, R Rand Allingham, Masakazu Nakano, Liyun Jia, Yuhong Chen, Yoko Ikeda, Baskaran Mani, Li-Jia Chen, Changwon Kee, David F Garway-Heath, …

Human molecular genetics, Vol.24(13), pp.3880-3892

01/07/2015

DOI: https://doi.org/10.1093/hmg/ddv128

PMCID: PMC4459396

PMID: 25861811

Abstract

Aged

Aged, 80 and over

Alleles

Female

Genetic Variation

Genotype

Glaucoma, Open-Angle - genetics

Humans

Male

Middle Aged

Polymorphism, Single Nucleotide

Proteoglycans - genetics

Receptors, Transforming Growth Factor beta - genetics

Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10(-33)), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10(-8)). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.

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Title: A common variant near TGFBR3 is associated with primary open angle glaucoma
Creators - without role: Zheng Li - Singapore Eye Research Institute
R Rand Allingham - Duke University
Masakazu Nakano - Genomic
Liyun Jia - Capital Medical University
Yuhong Chen - Department of Ophthalmology and Visual Science, Eye and ENT Hospital, Shanghai Medical School
Yoko Ikeda - Department of Ophthalmology
Baskaran Mani - Singapore Eye Research Institute
Li-Jia Chen - Hong Kong Eye Hospital
Changwon Kee - Sungkyunkwan University
David F Garway-Heath - University College London
Sarangapani Sripriya - Sankara Nethralaya
Nobuo Fuse - Tohoku Medical Megabank Organization
Khaled K Abu-Amero - King Saud University
Chukai Huang - Chinese University of Hong Kong
Prasanthi Namburi - Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamilnadu, India
Kathryn Burdon - Flinders University
Shamira A Perera - Singapore National Eye Center
Puya Gharahkhani - QIMR Berghofer Medical Research Institute
Ying Lin - University of Electronic Science and Technology of China
Morio Ueno - Department of Ophthalmology
Mineo Ozaki - Ozaki Eye Hospital, 1-15, Kamezaki, Hyuga, Miyazaki 883-0066, Japan
Takanori Mizoguchi - Mizoguchi Eye Hospital, 6-13 Tawara-machi, Sasebo, Nagasaki 857-0016, Japan
Subbiah Ramasamy Krishnadas - Aravind Eye Hospital
Essam A Osman - King Saud University
Mei Chin Lee - Singapore Eye Research Institute
Anita S Y Chan - Singapore National Eye Center
Liza-Sharmini A Tajudin - Universiti Sains Malaysia
Tan Do - Institute of Ophthalmology
Aurelien Goncalves - Ophthalmology Department
Pascal Reynier - Biochemistry Department, Angers University Hospital, Angers, France
Hong Zhang - Huazhong University of Science and Technology
Rupert Bourne - Hinchingbrooke Hospital
David Goh - Singapore National Eye Center
David Broadway - Norwich University
Rahat Husain - Singapore National Eye Center
Anil K Negi - Heart of UK NHS Foundation Trust, Birmingham, UK
Daniel H Su - Singapore National Eye Center
Ching-Lin Ho - Singapore National Eye Center
Augusto Azuara Blanco - Queen's University Belfast
Christopher K S Leung - Hong Kong Eye Hospital
Tina T Wong - Singapore National Eye Center
Azhany Yakub - Universiti Sains Malaysia
Yutao Liu - Augusta University
Monisha E Nongpiur - Singapore Eye Research Institute
Jong Chul Han - Sungkyunkwan University
Do Nhu Hon - Institute of Ophthalmology
Balekudaru Shantha - Sankara Nethralaya
Bowen Zhao - Capital Medical University
Jinghong Sang - Capital Medical University
NiHong Zhang - Capital Medical University
Ryuichi Sato - Genomic
Kengo Yoshii - Kyoto Prefectural University of Medicine
Songhomita Panda-Jonas - Heidelberg
Allison E Ashley Koch - Department of Medicine, Duke University Medical Center, Durham, NC, USA
Leon W Herndon - Duke University
Sayoko E Moroi - Department of Ophthalmology and Visual Sciences
Pratap Challa - Duke University
Jia Nee Foo - Genome Institute of Singapore
Jin-Xin Bei - Sun Yat-sen University
Yi-Xin Zeng - Sun Yat-sen University
Cameron P Simmons - University of Oxford
Tran Nguyen Bich Chau - University of Oxford
Philomenadin Ferdinamarie Sharmila - Sankara Nethralaya
Merwyn Chew - Singapore Eye Research Institute
Blanche Lim - Singapore Eye Research Institute
Pansy O S Tam - Hong Kong Eye Hospital
Elaine Chua - Singapore Eye Research Institute
Xiao Yu Ng - Singapore Eye Research Institute
Victor H K Yong - Singapore Eye Research Institute
Yaan Fun Chong - Singapore Eye Research Institute
Wee Yang Meah - Genome Institute of Singapore
Saravanan Vijayan - Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamilnadu, India
Sohn Seongsoo - Sungkyunkwan University
Wang Xu - Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore
Yik Ying Teo - Duke-NUS Medical School
Jessica N Cooke Bailey - Case Western Reserve University
Jae H Kang - Brigham and Women's Hospital
Jonathan L Haines - Case Western Reserve University
Ching Yu Cheng - Singapore National Eye Center
Seang-Mei Saw - Duke-NUS Medical School
E-Shyong Tai - Department of Medicine, National University Health System & National University of Singapore, Singapore
Julia E Richards - University of Michigan–Ann Arbor
Robert Ritch - New York Eye and Ear Infirmary
Douglas E Gaasterland - Eye Doctors of Washington DC, Washington, DC, USA
Louis R Pasquale - Massachusetts Eye and Ear Infirmary
Jianjun Liu - Genome Institute of Singapore
Jost B Jonas - Heidelberg
Dan Milea - Singapore National Eye Center
Ronnie George - Sankara Nethralaya
Saleh A Al-Obeidan - King Saud University
Kazuhiko Mori - Department of Ophthalmology
Stuart Macgregor - QIMR Berghofer Medical Research Institute
Alex W Hewitt - University of Tasmania
Christopher A Girkin - University of Alabama at Birmingham
Mingzhi Zhang - Chinese University of Hong Kong
Periasamy Sundaresan - Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamilnadu, India
Lingam Vijaya - Sankara Nethralaya
David A Mackey - University of Western Australia
Tien Yin Wong - Singapore National Eye Center
Jamie E Craig - Flinders University
Xinghuai Sun - Fudan University
Shigeru Kinoshita - Department of Ophthalmology
Janey L Wiggs - University of Alabama at Birmingham
Chiea-Chuen Khor - Genome Institute of Singapore
Zhenglin Yang - University of Electronic Science and Technology of China
Chi Pui Pang - Hong Kong Eye Hospital
Ningli Wang - Capital Medical University
Michael A Hauser - Duke Medical Center
Kei Tashiro - Genomic
Tin Aung - Singapore National Eye Center
Eranga N Vithana - Singapore Eye Research Institute
ICAARE-Glaucoma Consortium
Publication Details: Human molecular genetics, Vol.24(13), pp.3880-3892
Grant note: R01 EY013178 / NEI NIH HHS R56 EY011671 / NEI NIH HHS P20 RR015574 / NCRR NIH HHS P30 EY014104 / NEI NIH HHS R01 EY019126 / NEI NIH HHS R01 HL073389 / NHLBI NIH HHS R01 EY023512 / NEI NIH HHS T32 EY021453 / NEI NIH HHS R01 EY011671 / NEI NIH HHS R03 EY015682 / NEI NIH HHS R01 EY022305 / NEI NIH HHS U01 CA049449 / NCI NIH HHS R01 EY015473 / NEI NIH HHS R01 EY015543 / NEI NIH HHS HHSN268200782096C / NHLBI NIH HHS R01 EY008208 / NEI NIH HHS R01 EY018660 / NEI NIH HHS R01 EY015872 / NEI NIH HHS UM1 CA167552 / NCI NIH HHS R01 CA001833 / NCI NIH HHS U01 HG004608 / NHGRI NIH HHS R01 CA136725 / NCI NIH HHS U10 EY012118 / NEI NIH HHS U01 HG004446 / NHGRI NIH HHS U01 HG004728 / NHGRI NIH HHS P01 CA087969 / NCI NIH HHS P30 EY005722 / NEI NIH HHS R01 EY013315 / NEI NIH HHS R01 EY009847 / NEI NIH HHS U01 HG004424 / NHGRI NIH HHS R01 CA049449 / NCI NIH HHS R01 EY010886 / NEI NIH HHS R01 EY011008 / NEI NIH HHS R01 EY009580 / NEI NIH HHS R01 EY023646 / NEI NIH HHS T32 EY007157 / NEI NIH HHS R01 EY012118 / NEI NIH HHS P01 HL073042 / NHLBI NIH HHS
Identifiers: 9949982108331
Academic Unit: King Saud University
Language: English
Resource Type: Journal article