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

Vithana EN 1 , Khor CC 1 , Qiao C 2 , Nongpiur ME 1 , George R 3 , Chen LJ 4 Show all authors , Do T 5 , Abu-Amero K 6 , Huang CK 7 , Low S 8 , Tajudin LA 9 , Perera SA 1 , Cheng CY 1 , Xu L 10 , Jia H 2 , Ho CL 1 , Sim KS 11 , Wu RY 1 , Tham CCY 4 , Chew PTK 12 , Su DH 1 , Oen FT 1 , Sarangapani S 3 , Soumittra N 3 , Osman EA 6 , Wong HT 13 , Tang G 14 , Fan S 15 , Meng H 16 , Huong DTL 5 , Wang H 2 , Feng B 2 , Baskaran M 1 , Shantha B 3 , Ramprasad VL 3 , Kumaramanickavel G 3 , Iyengar SK 17 , How AC 1 , Lee KY 1 , Sivakumaran TA 17 , Yong VHK 1 , Ting SML 1 , Li Y 9 , Wang YX 10 , Tay WT 1 , Sim X 18 , Lavanya R 1 , Cornes BK 1 , Zheng YF 1 , Wong TT 1 , Loon SC 12 , Yong VKY 13 , Waseem N 8 , Yaakub A 9 , Chia KS 19 , Allingham RR 20 , Hauser MA 20 , Lam DSC 4 , Hibberd ML 21 , Bhattacharya SS 8 , Zhang M 7 , Teo YY 11 , Tan DT 1 , Jonas JB 22 , Tai ES 19 , Saw SM 1 , Hon DN 5 , Al-Obeidan SA 6 , Liu J 11 , Chau TNB 23 , Simmons CP 23 , Bei JX 24 , Zeng YX 24 , Foster PJ 8 , Vijaya L 3 , Wong TY 1 , Pang CP 4 , Wang N 2 , Aung T 1

Affiliations 

  • 1 Singapore Eye Research Institute, Singapore National Eye Centre, Singapore
  • 2 Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China
  • 3 Vision Research Foundation, Sankara Nethralaya, Chennai, India
  • 4 Department of Ophthalmology & Visual Sciences, Chinese University of Hong Kong, Hong Kong, China
  • 5 Vietnam National Institute of Ophthalmology, Hanoi, Vietnam
  • 6 Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • 7 Shantou University-Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou, China
  • 8 National Institute for Health Research (NIHR) Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and University College London (UCL) Institute of Ophthalmology, London, UK
  • 9 Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Malaysia
  • 10 Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China
  • 11 Human Genetics, Genome Institute of Singapore, Singapore
  • 12 Department of Ophthalmology, National University Health System & National University of Singapore, Singapore
  • 13 Department of Ophthalmology, Tan Tock Seng Hospital, Singapore
  • 14 Xingtai Eye Hospital, Xingtai, China
  • 15 Handan Eye Hospital, Handan, China
  • 16 Anyang Eye Hospital, Anyang, China
  • 17 Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
  • 18 Centre for Molecular Epidemiology, National University of Singapore, Singapore
  • 19 Saw Swee Hock School of Public Health, National University of Singapore, Singapore
  • 20 Department of Opthamology, Duke University Medical Center, Durham, North Carolina, USA
  • 21 Infectious Diseases, Genome Institute of Singapore, Singapore
  • 22 Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg, Heidelberg, Germany
  • 23 Oxford University Clinical Research Unit, Ho Chi Minh City, Vietnam
  • 24 State Key Laboratory of Oncology in Southern China, Guangzhou, China
Nat Genet, 2012 Oct;44(10):1142-1146.
PMID: 22922875 DOI: 10.1038/ng.2390

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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