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

Nongpiur ME 1 , Khor CC 2 , Jia H 3 , Cornes BK 1 , Chen LJ 4 , Qiao C 3 Show all authors , Nair KS 5 , Cheng CY 6 , Xu L 7 , George R 8 , Tan D 9 , Abu-Amero K 10 , Perera SA 1 , Ozaki M 11 , Mizoguchi T 12 , Kurimoto Y 13 , Low S 14 , Tajudin LS 15 , Ho CL 1 , Tham CC 4 , Soto I 5 , Chew PT 16 , Wong HT 17 , Shantha B 8 , Kuroda M 13 , Osman EA 10 , Tang G 18 , Fan S 19 , Meng H 20 , Wang H 3 , Feng B 3 , Yong VH 1 , Ting SM 1 , Li Y 7 , Wang YX 7 , Li Z 1 , Lavanya R 1 , Wu RY 1 , Zheng YF 1 , Su DH 1 , Loon SC 16 , Yong VK , Allingham RR 21 , Hauser MA 21 , Soumittra N 8 , Ramprasad VL 8 , Waseem N 14 , Yaakub A 15 , Chia KS 16 , Kumaramanickavel G 8 , Wong TT 1 , How AC 1 , Chau TN 22 , Simmons CP 23 , Bei JX 24 , Zeng YX 25 , Bhattacharya SS 14 , Zhang M 26 , Tan DT 27 , Teo YY 28 , Al-Obeidan SA 10 , Hon DN 9 , Tai ES 29 , Saw SM 30 , Foster PJ 14 , Vijaya L 8 , Jonas JB 31 , Wong TY 6 , John SW 5 , Pang CP 4 , Vithana EN 27 , Wang N 32 , Aung T 27

Affiliations 

  • 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
PLoS Genet, 2014 Mar;10(3):e1004089.
PMID: 24603532 DOI: 10.1371/journal.pgen.1004089

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.

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

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