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Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

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收录情况： ◇ SCIE

作者：
Yonova-Doing, Ekaterina[1] * ; Zhao, Wanting[2,3] * ; Igo, Robert P.[4] * ; Wang, Chaolong[5,6] * ; Sundaresan, Periasamy[7] ; Lee, Kristine E.[8] ; Jun, Gyungah R.[9] ; Alves, Alexessander Couto[1] ; Chai, Xiaoran[2] ; Chan, Anita S. Y.[2,10,11] ; Lee, Mei Chin[2,10] ; Fong, Allan[2] ; Tan, Ava G.[12] ; Khor, Chiea Chuen[2,13] ; Chew, Emily Y.[14] ; Hysi, Pirro G.[1,15] ; Fan, Qiao[2,3] ; Chua, Jacqueline[2,10] ; Chung, Jaeyoon[10] ; Liao, Jiemin[2] ; Colijn, Johanna M.[16,17] ; Burdon, Kathryn P.[18,19] ; Fritsche, Lars G.[20,21] ; Swift, Maria K.[8] ; Hilmy, Maryam H.[22] ; Chee, Miao Ling[2] ; Tedja, Milly[16,17] ; Bonnemaijer, Pieter W. M.[16,17] ; Gupta, Preeti[2] ; Tan, Queenie S.[23] ; Li, Zheng[13] ; Vithana, Eranga N.[2,10] ; Ravindran, Ravilla D.[24] ; Chee, Soon-Phaik[2,10,25] ; Shi, Yuan[2] ; Liu, Wenting[13] ; Su, Xinyi[2,23,25] ; Sim, Xueling[26] ; Shen, Yang[5] ; Wang, Ya Xing[27] ; Li, Hengtong[2] ; Tham, Yih-Chung[2] ; Teo, Yik Ying[26,28] ; Aung, Tin[2,10,25] ; Small, Kerrin S.[1] ; Mitchell, Paul[12] ; Jonas, Jost B.[27,29] ; Wong, Tien Yin[2,10,25] ; Fletcher, Astrid E.[29,30] ; Klaver, Caroline C. W.[16,17,31,32] ; Klein, Barbara E. K.[8] ; Wang, Jie Jin[12,33] ; Iyengar, Sudha K.[4] ; Hammond, Christopher J.[1,15] ; Cheng, Ching-Yu[2,10,25] ;
机构： [1]Kings Coll London, Sch Life Course Sci, Dept Twin Res & Genet Epidemiol, London SE1 7EH, England [2]Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore 168751, Singapore [3]Duke NUS Med Sch, Ctr Quantitat Med, Singapore 169857, Singapore [4]Case Western Reserve Univ, Epidemiol & Biostat, Cleveland, OH 44106 USA [5]Genome Inst Singapore, Computat & Syst Biol, Singapore 138672, Singapore [6]Huazhong Univ Sci & Technol, Sch Publ Hlth, Dept Epidemiol & Biostat, Tongji Med Coll, Wuhan 430030, Peoples R China [7]Aravind Med Res Fdn, Dept Genet, Madurai 625020, Tamil Nadu, India [8]Univ Wisconsin, Dept Ophthalmol & Visual Sci, Sch Med & Publ Hlth, Madison, WI 53726 USA [9]Boston Univ, Dept Med Biomed Genet, Sch Med, Boston, MA 02118 USA [10]Singapore Gen Hosp, Dept Pathol, Histol, Singapore 169856, Singapore [11]Duke NUS Med Sch, Ophthalmol & Visual Sci Acad Clin Program Eye ACP, Singapore 169857, Singapore [12]Univ Sydney, Westmead Inst Med Res, Ctr Vis Res, Sydney, NSW 2145, Australia [13]Genome Inst Singapore, Div Human Genet, Singapore 138672, Singapore [14]Natl Inst Hlth, Natl Eye Inst, Bethesda, MD 20814 USA [15]Kings Coll London, Dept Ophthalmol, London SE5 9RS, England [16]Erasmus MC, Dept Epidemiol, NL-3015 GD Rotterdam, Netherlands [17]Erasmus MC, Dept Ophthalmol, NL-3015 GD Rotterdam, Netherlands [18]Univ Tasmania, Menzies Inst Med Res, Hobart, Tas 7000, Australia [19]Flinders Univ S Australia, Dept Ophthalmol, Bedford Pk, SA 5042, Australia [20]Univ Michigan, Dept Biostat, Ctr Stat Genet, Ann Arbor, MI 48109 USA [21]Norwegian Univ Sci & Technol, Dept Publ Hlth, KG Jebsen Ctr Genet Epidemiol, N-7491 Trondheim, Norway [22]Singapore Gen Hosp, Dept Anat Pathol & Cytol, Singapore 169608, Singapore [23]Inst Mol & Cell Biol, Singapore 138673, Singapore [24]Aravind Eye Hosp, Madurai 625020, Tamil Nadu, India [25]Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Ophthalmol, Singapore 117597, Singapore [26]Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117549, Singapore [27]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing Inst Ophthalmol,Beijing Ophthalmol & Visu, Beijing, Peoples R China [28]Natl Univ Singapore, Dept Stat & Appl Probabil, Singapore 119077, Singapore [29]Heidelberg Univ, Med Fac Mannheim, Dept Ophthalmol, Seegartenklin Heidelberg, D-69115 Heidelberg, Germany [30]London Sch Hyg & Trop Med, Fac Epidemiol & Populat Hlth, London WC1E 7HT, England [31]Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, Nijmegen, Netherlands [32]Inst Mol & Clin Ophthalmol, Basel, Switzerland [33]Duke NUS Med Sch, Hlth Serv & Syst Res, Singapore 169857, Singapore
出处：
DOI： 10.1038/s42003-020-01421-2
ISSN：

摘要：
Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h(2)=0.48), but little is known about specific genetic factors underlying this condition. Here we report findings from the largest to date multi-ethnic meta-analysis of genome-wide association studies (discovery cohort N=14,151 and replication N=5299) of the International Cataract Genetics Consortium. We confirmed the known genetic association of CRYAA (rs7278468, P=2.8x10(-16)) with nuclear cataract and identified five new loci associated with this disease: SOX2-OT (rs9842371, P=1.7x10(-19)), TMPRSS5 (rs4936279, P=2.5x10(-10)), LINC01412 (rs16823886, P=1.3x10(-9)), GLTSCR1 (rs1005911, P=9.8x10(-9)), and COMMD1 (rs62149908, P=1.2x10(-8)). The results suggest a strong link of age-related nuclear cataract with congenital cataract and eye development genes, and the importance of common genetic variants in maintaining crystalline lens integrity in the aging eye. Here, the authors report a multi-ethnic genome wide association meta-analysis of 12 studies from the International Cataract Genetics Consortium. They find six new loci associated with age-related nuclear cataract, in addition to replicating the association at CRYAA, and suggest a strong genetic link between age-related nuclear and congenital cataracts.

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外文
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出版当年[2019]版：
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最新[2023]版：
大类 | 1 区 生物学
小类 | 1 区 生物学
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最新[2023]版：
Q1 BIOLOGY

影响因子： 最新[2023版] 最新五年平均 出版当年[2018版] 出版当年五年平均 出版前一年[2017版] 出版后一年[2019版]

第一作者：
第一作者机构： [1]Kings Coll London, Sch Life Course Sci, Dept Twin Res & Genet Epidemiol, London SE1 7EH, England
共同第一作者：
通讯作者：
通讯机构： [1]Kings Coll London, Sch Life Course Sci, Dept Twin Res & Genet Epidemiol, London SE1 7EH, England [2]Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore 168751, Singapore [10]Singapore Gen Hosp, Dept Pathol, Histol, Singapore 169856, Singapore [15]Kings Coll London, Dept Ophthalmol, London SE5 9RS, England [25]Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Ophthalmol, Singapore 117597, Singapore
推荐引用方式(GB/T 7714)：
Yonova-Doing Ekaterina,Zhao Wanting,Igo Robert P.,et al.Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract[J].COMMUNICATIONS BIOLOGY.2020,3(1):doi:10.1038/s42003-020-01421-2.
APA：
Yonova-Doing, Ekaterina,Zhao, Wanting,Igo, Robert P.,Wang, Chaolong,Sundaresan, Periasamy...&Cheng, Ching-Yu.(2020).Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract.COMMUNICATIONS BIOLOGY,3,(1)
MLA：
Yonova-Doing, Ekaterina,et al."Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract".COMMUNICATIONS BIOLOGY 3..1(2020)

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