关键词: CRYAA Single nucleotide polymorphisms cataract

Mesh : Cataract / genetics Crystallins / genetics Genetic Predisposition to Disease Genotype Humans Polymorphism, Single Nucleotide

来  源:   DOI:10.1080/08820538.2021.1903943   PDF(Sci-hub)

Abstract:
OBJECTIVE: Polymorphisms in alpha A crystallin (CRYAA) gene have been implicated in susceptibility to cataracts, but some published studies have reported inconclusive results. Our study aimed to conduct a meta-analysis investigating the association between polymorphisms in CRYAA and susceptibility to cataracts.
METHODS: The PubMed, Excerpta Medica Database, Cochrane Library and China National Knowledge Infrastructure were searched for all articles published up to 20 March 2019 that reported cataracts and three polymorphisms (rs3761381, rs13053109, and rs7278468) of CRYAA. Afterwards, statistical analysis was performed for available articles.
RESULTS: Four articles published between 2014 and 2017 were included, involving 869 cases and 1,950 controls. There was no statistical evidence of an association between cataract risk and CRYAA gene polymorphisms rs13053109 (p > .05) and rs3761382 (p > .05). Significant decreased cataract risks were observed for different gene models of rs7278468 polymorphism: for G vs T, OR = 0.6640; 95% CI, 0.5361-0.7736, p < .001; for GG vs TT, OR = 0.3864; 95% CI, 0.2379-0.6278, p < .001; for GG vs TT+GT, OR = 0.4492; 95% CI, 0.2829-0.7134, p = .001; for GG+GT vs TT, OR = 0.6645; 95% CI, 0.5058-0.8729, p = .003; for GT vs TT, OR = 0.7508; 95% CI, 0.5639-0.9996, p = .050.
CONCLUSIONS: Our meta-analysis indicated that rs3761382 and rs13053109 polymorphisms of CRYAA may not be associated with susceptibility to cataracts. Individuals carrying mutant genotype of rs7278468 polymorphism are associated with a significantly decreased cataract risk.
BACKGROUND: CC: Congenital cataract; ARC: Age-related cataract; SNPs: single nucleotide polymorphisms; NOS: Newcastle-Ottawa Scale; HWE: Hardy-Weinberg equilibrium; OR: odds ratio; CI: confidence interval; qPCR: quantitative polymerase chain reaction; NO: nuclear opalescence; NC: nuclear color.
摘要:
目的:αA晶状体蛋白(CRYAA)基因的多态性与白内障的易感性有关,但是一些已发表的研究报告没有定论。我们的研究旨在进行一项荟萃分析,调查CRYAA多态性与白内障易感性之间的关联。
方法:PubMed,摘录医学数据库,搜索了Cochrane图书馆和中国国家知识基础设施,以查找截至2019年3月20日发表的所有报告白内障和CRYAA的三个多态性(rs3761381,rs13053109和rs7278468)的文章。之后,对现有文章进行统计学分析.
结果:包括2014年至2017年期间发表的四篇文章,涉及869个病例和1,950个对照。没有统计学证据表明白内障风险与CRYAA基因多态性rs13053109(p>.05)和rs3761382(p>.05)之间存在关联。对于rs7278468多态性的不同基因模型,观察到白内障风险显着降低:对于GvsT,OR=0.6640;95%CI,0.5361-0.7736,p<.001;对于GG与TT,OR=0.3864;95%CI,0.2379-0.6278,p<.001;对于GG与TT+GT,OR=0.4492;95%CI,0.2829-0.7134,p=.001;对于GG+GT与TT,OR=0.6645;95%CI,0.5058-0.8729,p=.003;GT与TT,OR=0.7508;95%CI,0.5639-0.9996,p=0.050。
结论:我们的荟萃分析表明,CRYAA的rs3761382和rs13053109多态性可能与白内障易感性无关。携带rs7278468多态性突变基因型的个体与白内障风险显著降低相关。
背景:CC:先天性白内障;ARC:年龄相关性白内障;SNP:单核苷酸多态性;NOS:纽卡斯尔-渥太华量表;HWE:Hardy-Weinberg平衡;OR:比值比;CI:置信区间;qPCR:定量聚合酶链反应;NO:核乳光;NC:核颜色。
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