Xu Che, Wu Jiangxue, Wang Jianfeng
Department of Ophthalmology, the First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui Province, China.
Mol Vis. 2019 Oct 14;25:603-609. eCollection 2019.
Many studies have been conducted to investigate the association between the rs524952 and rs634990 polymorphisms and high myopia (HM). However, the results were conflicting. Thus, a meta-analysis was needed to reveal the real association between the two single nucleotide polymorphisms (SNPs) and HM.
All eligible studies published in Pubmed, Embase, China Biologic Medicine (CBM), the China National Knowledge Infrastructure (CNKI), the Cochrane Library, and the Web of Science from 2010 to March 2019 were examined.
Six comparison groups in four studies with 5,293 subjects for the rs524952 polymorphism and five studies with 6,750 subjects for the rs634990 polymorphism were included. No statistically significant associations were observed between the rs524952 and rs634990 polymorphisms and HM under the allelic model, recessive genetic model, and dominant genetic model in this meta-analysis. Subgroup analysis was conducted by dividing the studies into two groups according to the case sample size, which showed that the association between the rs524952 polymorphism and HM was found only in a subgroup of fewer than 300 cases under the dominant genetic model (OR=0.64; 95% confidence interval [CI]:0.43-0.96). Sensitivity analysis for the rs524952 polymorphism suggested the results of this study were stable under all the genetic models. However, the association between the rs634990 polymorphism and HM turned out to be statistically significant in the allelic, recessive, and dominant genetic models after the omission of Qiang et al.'s study. No publication bias was found.
The results of this meta-analysis suggested the rs524952 and rs634990 polymorphisms may have nothing to do with the development of HM. The present results must be confirmed with larger-scale studies in the future.
已经开展了许多研究来调查rs524952和rs634990基因多态性与高度近视（HM）之间的关联。然而，结果相互矛盾。因此，需要进行一项荟萃分析以揭示这两个单核苷酸多态性（SNP）与高度近视之间的真实关联。
检索了2010年至2019年3月发表在PubMed、Embase、中国生物医学文献数据库（CBM）、中国知网（CNKI）、考克兰图书馆和科学网中的所有符合条件的研究。
纳入了四项研究中关于rs524952基因多态性的六个比较组，共5293名受试者，以及五项研究中关于rs634990基因多态性的五个比较组，共6750名受试者。在本次荟萃分析中，在等位基因模型、隐性遗传模型和显性遗传模型下，未观察到rs524952和rs634990基因多态性与高度近视之间存在统计学显著关联。根据病例样本量将研究分为两组进行亚组分析，结果显示仅在显性遗传模型下病例数少于300例的亚组中发现rs524952基因多态性与高度近视之间存在关联（比值比[OR]=0.64；95%置信区间[CI]：0.43 - 0.96）。对rs524952基因多态性的敏感性分析表明，本研究结果在所有遗传模型下均稳定。然而，在剔除强等人的研究后，rs634990基因多态性与高度近视之间的关联在等位基因、隐性和显性遗传模型中均具有统计学显著性。未发现发表偏倚。
本次荟萃分析结果表明，rs524952和rs634990基因多态性可能与高度近视的发生无关。目前的结果必须在未来通过更大规模的研究加以证实。
