Dataset Information

Associations of rs524952 and rs634990 gene polymorphisms in 15q14 with high myopia: A meta-analysis.

ABSTRACT: Purpose: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. Methods: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. Results: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. Conclusions: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.

SUBMITTER: Xu C

PROVIDER: S-EPMC6798703 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Associations of rs524952 and rs634990 gene polymorphisms in 15q14 with high myopia: A meta-analysis.

Xu Che C Wu Jiangxue J Wang Jianfeng J

Molecular vision 20191014

<h4>Purpose</h4>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.<h4>Methods</h4>All eligible studies published in Pubmed, Embase, China Biologic Medicine (CBM), the China National Knowledge Infrastructure (CNKI), the Cochrane Library, and the Web of ...[more]

PMID: 31673225

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Project description:BackgroundThe polymorphisms rs6885224 and rs634990 have been reported to be associated with high myopia in many populations. As there is still no report on whether these two SNPs are associated with myopia in the Tujia and Miao minority areas of China, we conducted a replication study to evaluate the association of single-nucleotide polymorphisms in the regions 5p15.2 and 15q14 with high myopia in Tujia and Miao Chinese populations.MethodsWe performed a comprehensive meta-analysis of 5831 cases and 7055 controls to assess whether rs6885224 in the 5p15.2 region and rs634990 in the 15q14 region are associated with high myopia. Our replication study enrolled 804 individuals. Genomic DNA was extracted from venous leukocytes, and these two SNPs were genotyped by Sanger sequencing. Allele and genotype frequencies were analysed using χ2 tests, and ORs and 95% CIs were calculated.ResultsAccording to the results of the meta-analysis, rs6885224 in the CTNND2 gene showed no association with myopia [p = 0.222, OR = 1.154, 95% CI (0.917-1.452)]. Conversely, rs634990 in the 15q14 region did exhibit a significant correlation with myopia [p = 7.270 × 10- 7, OR = 0.817, 95% CI (0.754-0.885)]. In our replication study, no association with high myopia in the Tujia and Miao populations was found for rs634990 or rs6885224. The following were obtained by allele frequency analysis: rs6885224, p = 0.175, OR = 0.845, and 95% CI = 0.662-1.078; rs634990, p = 0.087, OR = 0.84, and the 95% CI = 0.687-1.026. Genotype frequency analysis yielded p = 0.376 for rs6885224 and p = 0.243 for rs634990.ConclusionsOur meta-analysis results show that rs634990 was significantly associated with myopia but that rs6885224 was not. Nevertheless, in our replication study, these two SNPs showed no association with myopia in the Tujia and Miao Chinese populations. This is the first report involving Tujia and Miao ethnic groups from Enshi minority areas. However, the sample size needs to be expanded and more stringent inclusion and exclusion criteria need to be formulated to verify the findings.

Project description:To evaluate the association between polymorphisms of RASGRF1 rs8027411 and high myopia in Chinese and Japanese populations.All eligible studies investigating the association between the RASGRF1 gene and high myopia listed in PubMed, EMBASE, the Cochrane Library, Web of Science, and the China Biologic Medical Database were retrieved. The effects were assessed with the pooled odds ratio (OR) and 95% confidence interval (CI). Heterogeneity between studies was evaluated with the Q-statistic test. Publication bias was tested with Begg's and Egger's linear regression tests. Subgroup analysis and sensitivity analysis were performed to identify the sources of heterogeneity.In the present meta-analysis, 2,529 individuals with high myopia and 3,127 controls from four studies were included and divided into seven groups. The results indicated that RASGRF1 rs8027411 was significantly associated with high myopia in Chinese and Japanese populations. Carriers of the rs8027411 G allele had a lower risk of high myopia compared to carriers with the T allele (G versus T, OR=0.83, 95% CI=0.77-0.89; p<0.001). Low but not significant heterogeneity was found in a recessive model. No heterogeneity was found in other genetic models. The subgroup analysis indicated that the protective effect of rs8027411 variants was more prominent in Chinese populations (G versus T, OR=0.80 in Chinese and OR=0.86 in Japanese; GG versus TT, OR=0.65 in Chinese and OR=0.77 in Japanese; GT versus TT, OR=0.76 in Chinese and OR=0.81 in Japanese; (GG+GT) versus TT, OR=0.73 in Chinese and OR=0.80 in Japanese; and GG versus (GT+TT), OR=0.77 in Chinese and OR=0.87 in Japanese). Sensitivity analysis indicated that the study results were stable in allelic, homozygote, heterozygote, and dominant models but were not stable in the recessive model. No evidence of publication bias was found.Carriers of the rs8027411 G allele in the RASGRF1 gene may be at a lower risk of high myopia in Chinese and Japanese populations. The RASGRF1 gene may play a role in the development of high myopia, especially in Asians. Additional studies are required to validate these results.

Dataset Information

Associations of rs524952 and rs634990 gene polymorphisms in 15q14 with high myopia: A meta-analysis.

Publications

Associations of rs524952 and rs634990 gene polymorphisms in 15q14 with high myopia: A meta-analysis.

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