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ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma

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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 [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 [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
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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.

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出版当年[2013]版:
大类 | 2 区 生物
小类 | 2 区 遗传学
最新[2025]版:
大类 | 2 区 生物学
小类 | 2 区 遗传学
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Q1 GENETICS & HEREDITY
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Q1 GENETICS & HEREDITY

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第一作者机构: [1]Singapore Eye Research Institute and Singapore National Eye Centre, Singapore
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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
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