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Please use this identifier to cite or link to this item: https://doi.org/10.1038/s42003-020-01421-2
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dc.titleCommon variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract
dc.contributor.authorYonova-Doing, E.
dc.contributor.authorZhao, W.
dc.contributor.authorIgo, R.P.
dc.contributor.authorWang, C.
dc.contributor.authorSundaresan, P.
dc.contributor.authorLee, K.E.
dc.contributor.authorJun, G.R.
dc.contributor.authorAlves, A.C.
dc.contributor.authorChai, X.
dc.contributor.authorChan, A.S.Y.
dc.contributor.authorLee, M.C.
dc.contributor.authorFong, A.
dc.contributor.authorTan, A.G.
dc.contributor.authorKhor, C.C.
dc.contributor.authorChew, E.Y.
dc.contributor.authorHysi, P.G.
dc.contributor.authorFan, Q.
dc.contributor.authorChua, J.
dc.contributor.authorChung, J.
dc.contributor.authorLiao, J.
dc.contributor.authorColijn, J.M.
dc.contributor.authorBurdon, K.P.
dc.contributor.authorFritsche, L.G.
dc.contributor.authorSwift, M.K.
dc.contributor.authorHilmy, M.H.
dc.contributor.authorChee, M.L.
dc.contributor.authorTedja, M.
dc.contributor.authorBonnemaijer, P.W.M.
dc.contributor.authorGupta, P.
dc.contributor.authorTan, Q.S.
dc.contributor.authorLi, Z.
dc.contributor.authorVithana, E.N.
dc.contributor.authorRavindran, R.D.
dc.contributor.authorChee, S.-P.
dc.contributor.authorShi, Y.
dc.contributor.authorLiu, W.
dc.contributor.authorSu, X.
dc.contributor.authorSim, X.
dc.contributor.authorShen, Y.
dc.contributor.authorWang, Y.X.
dc.contributor.authorLi, H.
dc.contributor.authorTham, Y.-C.
dc.contributor.authorTeo, Y.Y.
dc.contributor.authorAung, T.
dc.contributor.authorSmall, K.S.
dc.contributor.authorMitchell, P.
dc.contributor.authorJonas, J.B.
dc.contributor.authorWong, Tien Yin
dc.contributor.authorFletcher, A.E.
dc.contributor.authorKlaver, C.C.W.
dc.contributor.authorKlein, B.E.K.
dc.contributor.authorWang, J.J.
dc.contributor.authorIyengar, S.K.
dc.contributor.authorHammond, C.J.
dc.contributor.authorCheng, C.-Y.
dc.date.accessioned2021-08-25T09:14:48Z
dc.date.available2021-08-25T09:14:48Z
dc.date.issued2020
dc.identifier.citationYonova-Doing, E., Zhao, W., Igo, R.P., Wang, C., Sundaresan, P., Lee, K.E., Jun, G.R., Alves, A.C., Chai, X., Chan, A.S.Y., Lee, M.C., Fong, A., Tan, A.G., Khor, C.C., Chew, E.Y., Hysi, P.G., Fan, Q., Chua, J., Chung, J., Liao, J., Colijn, J.M., Burdon, K.P., Fritsche, L.G., Swift, M.K., Hilmy, M.H., Chee, M.L., Tedja, M., Bonnemaijer, P.W.M., Gupta, P., Tan, Q.S., Li, Z., Vithana, E.N., Ravindran, R.D., Chee, S.-P., Shi, Y., Liu, W., Su, X., Sim, X., Shen, Y., Wang, Y.X., Li, H., Tham, Y.-C., Teo, Y.Y., Aung, T., Small, K.S., Mitchell, P., Jonas, J.B., Wong, Tien Yin, Fletcher, A.E., Klaver, C.C.W., Klein, B.E.K., Wang, J.J., Iyengar, S.K., Hammond, C.J., Cheng, C.-Y. (2020). Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract. Communications Biology 3 (1) : 755. ScholarBank@NUS Repository. https://doi.org/10.1038/s42003-020-01421-2
dc.identifier.issn2399-3642
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/199247
dc.description.abstractNuclear 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. © 2020, The Author(s).
dc.publisherNature Research
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScopus OA2020
dc.typeArticle
dc.contributor.departmentDEAN'S OFFICE (DUKE-NUS MEDICAL SCHOOL)
dc.contributor.departmentOPHTHALMOLOGY
dc.contributor.departmentSAW SWEE HOCK SCHOOL OF PUBLIC HEALTH
dc.description.doi10.1038/s42003-020-01421-2
dc.description.sourcetitleCommunications Biology
dc.description.volume3
dc.description.issue1
dc.description.page755
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