机构:[1]Singapore Eye Research Institute and Singapore National Eye Centre, Singapore[2]Infectious Diseases, Genome Institute of Singapore, Singapore[3]Human Genetics, Genome Institute of Singapore, Singapore[4]Department of Paediatrics, National University Health System & National University of Singapore, Singapore[5]Saw Swee Hock School of Public Health, National University of Singapore, Singapore[6]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China首都医科大学附属北京同仁医院首都医科大学附属同仁医院[7]Department of Ophthalmology & Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China,[8]Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, United States of America[9]Department of Ophthalmology, National University Health System & National University of Singapore, Singapore[10]Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China研究所眼科研究所首都医科大学附属北京同仁医院首都医科大学附属同仁医院[11]Vision Research Foundation, Sankara Nethralaya, Chennai, India[12]Vietnam National Institute of Ophthalmology, Hanoi, Vietnam[13]Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia[14]Ozaki Eye Hospital, Hyuga, Japan[15]Mizoguchi Eye Clinic, Sasebo, Japan[16]Kobe Gen Hospital, Kobe, Japan[17]NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom[18]Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia[19]Department of Ophthalmology, Tan Tock Seng Hospital, Singapore[20]Xingtai Eye Hospital, Xingtai, China[21]Handan Eye Hospital, Handan, China[22]Anyang Eye Hospital, Anyang, China[23]Duke University Medical Center, Durham, North Carolina, United States of America[24]Oxford University Clinical Research Unit, Ho Chi Minh City, Vietnam[25]Centre for Tropical Medicine, Nuffield Department of Clinical Medicine, Oxford University, Oxford, United Kingdom[26]State Key Laboratory of Oncology in Southern China, Guangzhou, China[27]Department of Experimental Research, Sun Yat-Sen University Cancer Centre, Guangzhou, China[28]Peking Union Medical College, Chinese Academy of Medical Science, Beijing, China[29]Shantou University/Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou, China[30]Department of Medicine, National University Health System & National University of Singapore, Singapore[31]Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls- University Heidelberg, Germany[32]Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China研究所眼科研究所首都医科大学附属北京同仁医院首都医科大学附属同仁医院
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 = 8.17x10(-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 = 7.45x10(-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.
基金:
National Medical Research Council, SingaporeNational Medical Research Council, SingaporeUK Research & Innovation (UKRI)Medical Research Council UK (MRC) [NMRC/TCR/002-SERI/2008 (R626/47/2008TCR), CSA R613/34/2008, NMRC 0796/2003, STaR/0003/2008]; National Research Foundation of SingaporeNational Research Foundation, Singapore; Biomedical Research Council, SingaporeAgency for Science Technology & Research (ASTAR) [BMRC 09/1/35/19/616, 08/1/35/19/550]; Genome Institute of Singapore; Beijing Municipal Natural Science FoundationBeijing Natural Science Foundation [7102036, 7081001]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81030016]; USM Research University [1001/PPSP/812101]; Richard Desmond Charitable Trust via Fight for Sight; International Glaucoma Association; NATIONAL EYE INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Eye Institute (NEI) [R01EY011721] Funding Source: NIH RePORTER
第一作者机构:[1]Singapore Eye Research Institute and Singapore National Eye Centre, Singapore
共同第一作者:
通讯作者:
通讯机构:[1]Singapore Eye Research Institute and Singapore National Eye Centre, Singapore[6]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China[9]Department of Ophthalmology, National University Health System & National University of Singapore, Singapore[32]Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China
推荐引用方式(GB/T 7714):
Monisha E. Nongpiur.,Chiea Chuen Khor.,Hongyan Jia.,et al.ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma[J].PLOS GENETICS.2014,10(3):doi:10.1371/journal.pgen.1004089.
APA:
Monisha E. Nongpiur.,Chiea Chuen Khor.,Hongyan Jia.,Belinda K. Cornes,Li-Jia Chen...&Tin Aung.(2014).ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma.PLOS GENETICS,10,(3)
MLA:
Monisha E. Nongpiur.,et al."ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma".PLOS GENETICS 10..3(2014)