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Nat Genet. 2012 Oct;44(10):1142-1146. doi: 10.1038/ng.2390. Epub 2012 Aug 26.

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

Author information

1
Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
2
Department of Ophthalmology, National University Health System & National University of Singapore, Singapore.
3
Infectious Diseases, Genome Institute of Singapore, Singapore.
4
Human Genetics, Genome Institute of Singapore, Singapore.
5
Department of Paediatrics, National University Health System & National University of Singapore, Singapore.
6
Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
7
Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
8
Vision Research Foundation, Sankara Nethralaya, Chennai, India.
9
Department of Ophthalmology & Visual Sciences, Chinese University of Hong Kong, Hong Kong, China.
10
Vietnam National Institute of Ophthalmology, Hanoi, Vietnam.
11
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
12
Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, Florida, USA.
13
Shantou University-Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou, China.
14
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.
15
Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Malaysia.
16
Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
17
Xiamen Eye Centre, Xiamen University, Xiamen, China.
18
Department of Ophthalmology, Tan Tock Seng Hospital, Singapore.
19
Xingtai Eye Hospital, Xingtai, China.
20
Handan Eye Hospital, Handan, China.
21
Anyang Eye Hospital, Anyang, China.
22
Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA.
23
Centre for Molecular Epidemiology, National University of Singapore, Singapore.
24
Department of Opthamology, Duke University Medical Center, Durham, North Carolina, USA.
25
Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg, Heidelberg, Germany.
26
Department of Medicine, National University Health System & National University of Singapore, Singapore.
27
Duke-National University of Singapore Graduate Medical School, Singapore.
28
Oxford University Clinical Research Unit, Ho Chi Minh City, Vietnam.
29
Centre for Tropical Medicine, Nuffield Department of Clinical Medicine, Oxford University, Oxford, UK.
30
State Key Laboratory of Oncology in Southern China, Guangzhou, China.
31
Department of Experimental Research, Sun Yat-Sen University Cancer Centre, Guangzhou, China.
32
Peking Union Medical College, Chinese Academy of Medical Science, Beijing, China.
#
Contributed equally

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.

PMID:
22922875
PMCID:
PMC4333205
DOI:
10.1038/ng.2390
[Indexed for MEDLINE]
Free PMC Article

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