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PLoS Genet. 2014 Mar 6;10(3):e1004089. doi: 10.1371/journal.pgen.1004089. eCollection 2014 Mar.

ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.

Author information

1
Singapore Eye Research Institute and Singapore National Eye Centre, Singapore.
2
Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Infectious Diseases, Genome Institute of Singapore, Singapore; Human Genetics, Genome Institute of Singapore, Singapore; Department of Paediatrics, National University Health System & National University of Singapore, Singapore; Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
3
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China.
4
Department of Ophthalmology & Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
5
Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, United States of America.
6
Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Saw Swee Hock School of Public Health, National University of Singapore, Singapore; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore.
7
Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China.
8
Vision Research Foundation, Sankara Nethralaya, Chennai, India.
9
Vietnam National Institute of Ophthalmology, Hanoi, Vietnam.
10
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
11
Ozaki Eye Hospital, Hyuga, Japan.
12
Mizoguchi Eye Clinic, Sasebo, Japan.
13
Kobe Gen Hospital, Kobe, Japan.
14
NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.
15
Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia.
16
Department of Ophthalmology, National University Health System & National University of Singapore, Singapore.
17
Department of Ophthalmology, Tan Tock Seng Hospital, Singapore.
18
Xingtai Eye Hospital, Xingtai, China.
19
Handan Eye Hospital, Handan, China.
20
Anyang Eye Hospital, Anyang, China.
21
Duke University Medical Center, Durham, North Carolina, United States of America.
22
Oxford University Clinical Research Unit, Ho Chi Minh City, Vietnam.
23
Oxford University Clinical Research Unit, Ho Chi Minh City, Vietnam; Centre for Tropical Medicine, Nuffield Department of Clinical Medicine, Oxford University, Oxford, United Kingdom.
24
State Key Laboratory of Oncology in Southern China, Guangzhou, China; Department of Experimental Research, Sun Yat-Sen University Cancer Centre, Guangzhou, China.
25
State Key Laboratory of Oncology in Southern China, Guangzhou, China; Department of Experimental Research, Sun Yat-Sen University Cancer Centre, Guangzhou, China; Peking Union Medical College, Chinese Academy of Medical Science, Beijing, China.
26
Shantou University/Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou, China.
27
Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore.
28
Human Genetics, Genome Institute of Singapore, Singapore; Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
29
Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Department of Medicine, National University Health System & National University of Singapore, Singapore.
30
Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
31
Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg, Germany.
32
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China; Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Erratum in

  • PLoS Genet. 2014 Apr;10(4):e1004352. Yong, Vernon K Y [added].

Abstract

Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size =  -0.045 mm, P = 8.17 × 10(-9)). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06-1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45 × 10(-9); 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions.

PMID:
24603532
PMCID:
PMC3945113
DOI:
10.1371/journal.pgen.1004089
[Indexed for MEDLINE]
Free PMC Article

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