机构：[1]Department of Ophthalmology and Visual Science, Eye and Ear Nose Throat (ENT) Hospital, Shanghai Medical School, Fudan University, Shanghai, China[2]SichuanProvincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People’sHospital, Chengdu, China四川省人民医院[3]School of Medicine, University of Electronic Science and Technology of China, Chengdu, China四川省人民医院[4]Singapore Eye Research Institute,Singapore National Eye Centre, Singapore[5]Department of Ophthalmology, National University Health System and National University of Singapore, Singapore[6]Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, 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]China Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China[8]Department of Ophthalmology and Visual Sciences,The Chinese University of Hong Kong, Hong Kong, China[9]Department of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’sHospital, Chengdu, China四川省人民医院[10]West High School, Salt Lake City, Utah, USA[11]Human Genetics, Genome Institute of Singapore, Singapore[12]State Key Laboratory ofMedical Neurobiology, Institutes of Brain Science, Fudan University, Shanghai, China[13]Myopia Key Laboratory of the Ministry of Health of China, Shanghai, China[14]Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China四川省人民医院
We performed a genome-wide association study for primary open-angle glaucoma (POAG) in 1,007 cases with high-pressure glaucoma (HPG) and 1,009 controls from southern China. We observed genome-wide significant association at multiple SNPs near ABCA1 at 9q31.1 (rs2487032; P = 1.66 x 10(-8)) and suggestive evidence of association in PMM2 at 16p13.2 (rs3785176; P= 3.18 x 10(-6)). We replicated these findings in a set of 525 HPG cases and 912 controls from Singapore and a further set of 1,374 POAG cases and 4,053 controls from China. We observed genome-wide significant association with more than one SNP at the two loci (P = 2.79 x 10(-19) for rs2487032 representing ABCA1 and P = 5.77 x 10(-10) for rs3785176 representing PMM2). Both ABCA1 and PMM2 are expressed in the trabecular meshwork, optic nerve and other ocular tissues. In addition, ABCA1 is highly expressed in the ganglion cell layer of the retina, a finding consistent with it having a role in the development of glaucoma.
基金：
National Natural Science Foundation of China
(81025006 (Z.Y.), 81170883 (Z.Y.), 81430008 (Z.Y.), 81200723 (Y. Chen), 81271007
(X. Zhu) and 81271005 (N.W.)); the National Basic Research Program of China
(973 Program, 2011CB504604 to Z.Y.); the Department of Science and Technology
of Sichuan Province, China (2014SZ0169 (Z.Y.), 2012SZ0219 (Z.Y.) and
2011jtd0020 (Z.Y.)); the Special Scientific Research Project of Health Professions
(201302015 (X.S.)); research grants 467708 (C.P.P. and C.C.Y.T.) and 468810
(C.P.P. and C.K.S.L.) from the General Research Fund, Hong Kong; the National
Medical Research Council, Singapore (NMRC/TCR/002-SERI/2008 (R626/47/
2008TCR (T.A.)), CSA R613/34/2008 (T.A.), NMRC 0796/2003 (T.Y.W.) and
STaR/0003/2008 (T.Y.W.)); the National Research Foundation of Singapore,
Biomedical Research Council, Singapore (BMRC 09/1/35/19/616 (T.Y.W.),
08/1/35/19/550 (T.A.) and 10/1/35/19/675 (E.N.V. and C.C.K.)); and the Genome
Institute of Singapore (GIS/12-AR2105 (C.C.K.)).
第一作者机构：[1]Department of Ophthalmology and Visual Science, Eye and Ear Nose Throat (ENT) Hospital, Shanghai Medical School, Fudan University, Shanghai, China
共同第一作者：
通讯作者：
通讯机构：[1]Department of Ophthalmology and Visual Science, Eye and Ear Nose Throat (ENT) Hospital, Shanghai Medical School, Fudan University, Shanghai, China[2]SichuanProvincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People’sHospital, Chengdu, China[3]School of Medicine, University of Electronic Science and Technology of China, Chengdu, China[12]State Key Laboratory ofMedical Neurobiology, Institutes of Brain Science, Fudan University, Shanghai, China[13]Myopia Key Laboratory of the Ministry of Health of China, Shanghai, China[14]Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China
推荐引用方式(GB/T 7714)：
Yuhong Chen,Ying Lin,Eranga N Vithana,et al.Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma[J].NATURE GENETICS.2014,46(10):1115-1119.doi:10.1038/ng.3078.
APA：
Yuhong Chen,Ying Lin,Eranga N Vithana,Liyun Jia,Xianbo Zuo...&Zhenglin Yang.(2014).Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma.NATURE GENETICS,46,(10)
MLA：
Yuhong Chen,et al."Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma".NATURE GENETICS 46..10(2014):1115-1119
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