The impact of GJA8 SNPs on susceptibility to age-related cataract.
The impact of GJA8 SNPs on susceptibility to age-related cataract.
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GJA8 SNP 对年龄相关性白内障易感性的影响
DOI：
10.1007/s00439-018-1945-5
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发表时间：
2018-12
期刊：
影响因子：
5.3
通讯作者：
Shentu X
中科院分区：
文献类型：
--
作者：
Yu X;Ping X;Zhang X;Cui Y;Yang H;Tang X;Tang Y;Shentu X
缝隙连接蛋白α8(GJA8)基因在人类先天性白内障中被广泛研究。然而，对其与老年性白内障(ARC)的关系却知之甚少。在这项研究中，发现了三个与ARC风险增加相关的GJA8标记单核苷酸多态：在显性和加性模型下，普通ARC的rs2132397；在隐性和加性模型下的一般ARC的rs7541950；以及在隐性模型下的皮质性白内障的rs6657114。为了揭示其潜在的机制，本研究还试图探讨GJA8是否参与了人类晶状体上皮细胞的自噬过程。结果表明，GJA8可能参与自噬以维持细胞内环境，这可能是GJA8诱导白内障形成的一种新机制。综上所述，本研究确定了ARC上GJA8基因多态性的遗传易感性，为全面了解GJA8基因变异影响晶状体混浊的病理机制提供了新的线索。
Thegap junction protein alpha 8(GJA8) gene has been widely studied in human congenital cataracts. However, little is known about its relationship with age-related cataract (ARC). In this study, threeGJA8-tagged single nucleotide polymorphisms related to an increased ARC risk were identified: rs2132397 for general ARC under both dominant and additive models; rs7541950 for general ARC under both recessive and additive models; and rs6657114 for cortical cataract under the recessive model. To uncover the underlying mechanisms, this study also sought to explore whether GJA8 is involved in the autophagy process in human lens epithelial cells. The results showed that GJA8 may participate in autophagy to maintain the intracellular environment, which may be a novel mechanism for cataract formation induced byGJA8. In conclusion, this study identified the genetic susceptibility ofGJA8polymorphisms on ARC and provides new clues for fully understanding the pathological mechanism ofGJA8variants in affecting lens opacity.
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影响因子：
3.4
作者：
Ibaraki, N;Chen, SC;Reddy, VN
通讯作者：
Reddy, VN
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作者：
Sagona AP;Nezis IP;Stenmark H
通讯作者：
Stenmark H
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34.3
作者：
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120.7
作者：
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通讯作者：
Lietman, T
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4
作者：
Lichtenstein, Alexandra;Minogue, Peter J.;Berthoud, Viviana M.
通讯作者：
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