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Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract

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机构： [1]Singapore Eye Research Institute, Singapore National Eye Center, Singapore 168751, Singapore [2]Department of Ophthalmology [3]Department of Medicine, National University of Singapore and National University Health System, Singapore 119228, Singapore [4]Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore [5]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing 100730, China [6]Department of Statistics and Applied Probability, National University of Singapore, Singapore 117546, Singapore [7]Department of Ophthalmology, Centre for Vision Research, Westmead Millennium Institute, University of Sydney, Sydney, NSW 2145, Australia [8]Department of Medicine (Biomedical Genetics) [9]Department of Ophthalmology, Boston University School of Medicine, Boston, MA 02118, USA, [10]Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA, [11]Duke-National University of Singapore Graduate Medical School, Singapore 169857, Singapore, [12]Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA, [13]Department of Epidemiology and Biostatistics, [14]Department of Genetics and Genome Sciences, [15]Center for Clinical Investigation, Case Western Reserve University, Cleveland, OH 44106, USA, [16]Department of Ophthalmology and Visual Sciences, Case Western Reserve University and University Hospitals Eye Institute, Cleveland, OH 44106, USA, [17]Genome Institute of Singapore, Agency for Science, Technology, and Research, Singapore 138672, Singapore, [18]Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne VIC 3002, Australia [19]Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg, 68167 Mannheim, Germany

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Age-related cataract is a leading cause of blindness worldwide, especially in developing countries where access to cataract surgery remains limited. Previous linkage and candidate gene studies suggested genetic influences on age-related nuclear cataract but few genetic markers have been identified thus far. We conducted genomewide association studies on 4569 Asians (including 2369 Malays and 2200 Indians), and replicated our analysis in 2481 Chinese from two independent cohorts (1768 Chinese in Singapore and 803 Chinese in Beijing). We confirmed two genome-wide significant loci for nuclear cataract in the combined meta-analysis of four cohorts (n = 7140). The first locus was at chromosome 3q25.31 in KCNAB1 (rs7615568, fixed-effect P-meta = 2.30 x 10(-8); random-effect P-meta = 1.08 x 10(-8)). The second locus was at chromosome 21 in the proximity of CRYAA (rs11911275, fixed-effect P-meta = 2.77 x 10(-8); random-effect P-meta = 1.98 x 10(-9)), a major protein component of eye lens. The findings were further supported by up-regulation and down-regulation of KCNAB1 and CRYAA in human lens capsule, respectively, as the severity of nuclear cataract increases. The results offer additional insights into the pathogenesis of nuclear cataract in Asians.

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出版当年[2013]版：

大类 | 2 区生物

小类 | 2 区生化与分子生物学 2 区遗传学

最新[2025]版：

大类 | 2 区生物学

小类 | 3 区生化与分子生物学 3 区遗传学

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出版当年[2012]版：

Q1 GENETICS & HEREDITY Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

最新[2023]版：

Q2 GENETICS & HEREDITY Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

影响因子： 3.1 最新[2023版] 4.2 最新五年平均 7.692 出版当年[2012版] 7.541 出版当年五年平均 7.636 出版前一年[2011版] 6.677 出版后一年[2013版]

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第一作者机构： [1]Singapore Eye Research Institute, Singapore National Eye Center, Singapore 168751, Singapore [2]Department of Ophthalmology

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通讯机构： [1]Singapore Eye Research Institute, Singapore National Eye Center, Singapore 168751, Singapore [2]Department of Ophthalmology [4]Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore [11]Duke-National University of Singapore Graduate Medical School, Singapore 169857, Singapore, [*1]Singapore Eye Research Institute, 20 College Road, The Academia, Level 6, Discovery Tower, Singapore 169856.

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