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

• 作者: Xi-Yuan Ping Xia-Jing Tang Xiao-Ning Yu Xing-Chao Shentu Ye-Lei Tang
• 来源期刊: 国际眼科杂志:英文版
• 学科: 医学
• 关键词: gap JUNCTION protein alpha 3 single-nucleotide POLYMORPHISMS AGE-RELATED CATARACT
• 年，卷（期）: gjykzzywb_2019,（6）
• 页码范围: 1008-1011
• 页数: 4页
• 分类号: R776.1

摘要

AIM: To determine the association of gap junction protein alpha 3(GJA3) gene tag single-nucleotide polymorphisms(SNPs) with susceptibility to age-related cataract(ARC).METHODS: In total, 486 ARC patients were matched with 500 healthy controls. All the participants underwent complete ophthalmic examinations. Haplotype-tagging SNPs of GJA3 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 GJA3 SNPs were evaluated with logistic regression analysis.RESULTS: Four tag GJA3 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(P=0.002, OR: 0.227, 95%CI:0.088-0.590) under the recessive model.CONCLUSION: Our study indicates that GJA3 variants may influence the development of posterior subcapsular cataracts. Further studies need to be designed to confirm this possibility.