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

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-e...

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Detalles Bibliográficos
Autores principales: Yonova-Doing, Ekaterina, Zhao, Wanting, Igo, Robert P., Wang, Chaolong, Sundaresan, Periasamy, Lee, Kristine E., Jun, Gyungah R., Alves, Alexessander Couto, Chai, Xiaoran, Chan, Anita S. Y., Lee, Mei Chin, Fong, Allan, Tan, Ava G., Khor, Chiea Chuen, Chew, Emily Y., Hysi, Pirro G., Fan, Qiao, Chua, Jacqueline, Chung, Jaeyoon, Liao, Jiemin, Colijn, Johanna M., Burdon, Kathryn P., Fritsche, Lars G., Swift, Maria K., Hilmy, Maryam H., Chee, Miao Ling, Tedja, Milly, Bonnemaijer, Pieter W. M., Gupta, Preeti, Tan, Queenie S., Li, Zheng, Vithana, Eranga N., Ravindran, Ravilla D., Chee, Soon-Phaik, Shi, Yuan, Liu, Wenting, Su, Xinyi, Sim, Xueling, Shen, Yang, Wang, Ya Xing, Li, Hengtong, Tham, Yih-Chung, Teo, Yik Ying, Aung, Tin, Small, Kerrin S., Mitchell, Paul, Jonas, Jost B., Wong, Tien Yin, Fletcher, Astrid E., Klaver, Caroline C. W., Klein, Barbara E. K., Wang, Jie Jin, Iyengar, Sudha K., Hammond, Christopher J., Cheng, Ching-Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733496/
https://www.ncbi.nlm.nih.gov/pubmed/33311586
http://dx.doi.org/10.1038/s42003-020-01421-2
Descripción
Sumario: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 = 2.8 × 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.

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