The impact of GJA3 SNPs on susceptibility to age-related cataract

• Published in: International journal of ophthalmology Vol. 12; no. 6; pp. 1008 - 1011
• Main Authors: Tang, Xia-Jing, Shentu, Xing-Chao, Tang, Ye-Lei, Ping, Xi-Yuan, Yu, Xiao-Ning
• Format: Journal Article
• Language: English
• Published: China International Journal of Ophthalmology Press 18.06.2019; Press of International Journal of Ophthalmology (IJO PRESS)
• Subjects: age-related cataract; gap junction protein alpha 3; Investigation; single-nucleotide polymorphisms; single-nucleotide polymorphisms; age-related cataract; gap junction protein alpha 3
• ISSN: 2222-3959; 2227-4898
• DOI: 10.18240/ijo.2019.06.21

To determine the association of ( ) gene tag single-nucleotide polymorphisms (SNPs) with susceptibility to age-related cataract (ARC). In total, 486 ARC patients were matched with 500 healthy controls. All the participants underwent complete ophthalmic examinations. Haplotype-tagging SNPs of gene were selected from the HapMap Beijing Han Chinese population. Genomic DNA was extracted from the peripheral blood leukocytes of all the subjects. Under three different genetic models: dominant, recessive, and additive, the association between SNPs and ARC was examined. After adjusting for age and sex, the genetic effects of the SNPs were evaluated with logistic regression analysis. Four tag SNPs (rs6490519, rs9506430, rs9509053, and rs9552089) were included in the present study. None of the SNPs showed a significant relationship with an altered risk of total ARC under the dominant, recessive, or additive models. In the subgroup analysis, rs9506430 had a significant effect on the formation of a posterior subcapsular cataract ( =0.002, OR: 0.227, 95%CI: 0.088-0.590) under the recessive model. Our study indicates that variants may influence the development of posterior subcapsular cataracts. Further studies need to be designed to confirm this possibility.