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启动子多态性与白内障易感性:荟萃分析。

Polymorphisms in Promoter with Susceptibility to Cataract: A Meta-Analysis.

机构信息

Department of Ophthalmology, First Affiliated Hospital of Soochow University, Soochow, Jiangsu, China.

Department of Ophthalmology, Northern Jiangsu People's Hospital, Yangzhou, Jiangsu, China.

出版信息

Semin Ophthalmol. 2021 Aug 18;36(5-6):429-436. doi: 10.1080/08820538.2021.1903943. Epub 2021 May 19.

DOI:10.1080/08820538.2021.1903943
PMID:34010109
Abstract

AIM

Polymorphisms in alpha A crystallin () 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 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 . 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 gene polymorphisms rs13053109 ( > .05) and rs3761382 ( > .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, < .001; for GG vs TT, OR = 0.3864; 95% CI, 0.2379-0.6278, < .001; for GG vs TT+GT, OR = 0.4492; 95% CI, 0.2829-0.7134, = .001; for GG+GT vs TT, OR = 0.6645; 95% CI, 0.5058-0.8729, = .003; for GT vs TT, OR = 0.7508; 95% CI, 0.5639-0.9996, = .050.

CONCLUSION

Our meta-analysis indicated that rs3761382 and rs13053109 polymorphisms of may not be associated with susceptibility to cataracts. Individuals carrying mutant genotype of rs7278468 polymorphism are associated with a significantly decreased cataract risk.

ABBREVIATIONS

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

α A 晶状体蛋白()基因的多态性与白内障易感性有关,但一些已发表的研究结果尚无定论。本研究旨在进行荟萃分析,以探讨与白内障易感性相关的多态性。

方法

检索截至 2019 年 3 月 20 日的 PubMed、Excerpta Medica Database、Cochrane Library 和中国国家知识基础设施,以获取报道白内障和三个多态性(rs3761381、rs13053109 和 rs7278468)的所有文章。然后对可用的文章进行统计分析。

结果

共纳入 2014 年至 2017 年发表的 4 篇文章,涉及 869 例病例和 1950 例对照。白内障风险与基因多态性 rs13053109(>0.05)和 rs3761382(>0.05)之间无统计学关联。rs7278468 多态性的不同基因模型观察到白内障风险显著降低:对于 G 与 T,OR=0.6640;95%CI,0.5361-0.7736,<0.001;对于 GG 与 TT,OR=0.3864;95%CI,0.2379-0.6278,<0.001;对于 GG 与 TT+GT,OR=0.4492;95%CI,0.2829-0.7134,=0.001;对于 GG+GT 与 TT,OR=0.6645;95%CI,0.5058-0.8729,=0.003;对于 GT 与 TT,OR=0.7508;95%CI,0.5639-0.9996,=0.050。

结论

本荟萃分析表明,与白内障易感性相关的可能不是 rs3761382 和 rs13053109 多态性。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。

缩写词

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:哈迪-温伯格平衡;OR:比值比;CI:置信区间;qPCR:实时定量聚合酶链反应;NO:核不透明;NC:核色。

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