Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract.
Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract.
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DOI：
10.1038/s42003-020-01421-2
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发表时间：
2020-12-11
影响因子：
5.9
通讯作者：
Cheng CY
中科院分区：
文献类型：
--
作者：
Yonova-Doing E;Zhao W;Igo RP Jr;Wang C;Sundaresan P;Lee KE;Jun GR;Alves AC;Chai X;Chan ASY;Lee MC;Fong A;Tan AG;Khor CC;Chew EY;Hysi PG;Fan Q;Chua J;Chung J;Liao J;Colijn JM;Burdon KP;Fritsche LG;Swift MK;Hilmy MH;Chee ML;Tedja M;Bonnemaijer PWM;Gupta P;Tan QS;Li Z;Vithana EN;Ravindran RD;Chee SP;Shi Y;Liu W;Su X;Sim X;Shen Y;Wang YX;Li H;Tham YC;Teo YY;Aung T;Small KS;Mitchell P;Jonas JB;Wong TY;Fletcher AE;Klaver CCW;Klein BEK;Wang JJ;Iyengar SK;Hammond CJ;Cheng CY
Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h2 = 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 = 2.8 × 10−16) with nuclear cataract and identified five new loci associated with this disease: SOX2-OT (rs9842371, P = 1.7 × 10−19), TMPRSS5 (rs4936279, P = 2.5 × 10−10), LINC01412 (rs16823886, P = 1.3 × 10−9), GLTSCR1 (rs1005911, P = 9.8 × 10−9), and COMMD1 (rs62149908, P = 1.2 × 10−8). 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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影响因子：
13.7
作者：
Chang JR;Koo E;Agrón E;Hallak J;Clemons T;Azar D;Sperduto RD;Ferris FL 3rd;Chew EY;Age-Related Eye Disease Study Group
通讯作者：
Age-Related Eye Disease Study Group
遗传对人体组织基因表达的影响。
影响因子：
64.8
作者：
GTEx Consortium;Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group;Statistical Methods groups—Analysis Working Group;Enhancing GTEx (eGTEx) groups;NIH Common Fund;NIH/NCI;NIH/NHGRI;NIH/NIMH;NIH/NIDA;Biospecimen Collection Source Site—NDRI;Biospecimen Collection Source Site—RPCI;Biospecimen Core Resource—VARI;Brain Bank Repository—University of Miami Brain Endowment Bank;Leidos Biomedical—Project Management;ELSI Study;Genome Browser Data Integration &Visualization—EBI;Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz;Lead analysts:;Laboratory, Data Analysis &Coordinating Center (LDACC):;NIH program management:;Biospecimen collection:;Pathology:;eQTL manuscript working group:;Battle A;Brown CD;Engelhardt BE;Montgomery SB
通讯作者：
Montgomery SB
影响因子：
30.8
作者：
Bulik-Sullivan, Brendan K.;Loh, Po-Ru;Finucane, Hilary K.;Ripke, Stephan;Yang, Jian;Patterson, Nick;Daly, Mark J.;Price, Alkes L.;Neale, Benjamin M.
通讯作者：
Neale, Benjamin M.
影响因子：
1.8
作者：
Loomis SJ;Klein AP;Lee KE;Chen F;Bomotti S;Truitt B;Iyengar SK;Klein R;Klein BEK;Duggal P
通讯作者：
Duggal P
影响因子：
13.7
作者：
Klein, Barbara E. K.;Klein, Ronald;Gangnon, Ronald E.
通讯作者：
Gangnon, Ronald E.