Association of 5p15.2 and 15q14 with high myopia in Tujia and Miao Chinese populations

Junwen Wang,Fang Liu,Tuo Li,Xiusheng Song

doi:10.1186/s12886-020-01516-8

Abstract

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.

Highlights

The polymorphisms rs6885224 and rs634990 have been reported to be associated with high myopia in many populations
Myopia is a type of refractive error that is mainly determined by corneal curvature, lens adjustment and axial length [1]
According to the results of the meta-analysis, rs6885224 in the Catenin Delta 2 gene (CTNND2) gene showed no association with myopia [p = 0.222, Odds ratio (OR) = 1.154, 95% Confidence interval (CI) (0.917–1.452)], whereas rs634990 in the 15q14 region did display a significant association with myopia [p = 7.270 × 10− 7, OR = 0.817, 95% CI (0.754–0.885)] (Fig. 1, Additional file 1)

Summary

Introduction

The 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. Myopia is a common and frequently occurring disease, with a high prevalence in both children and adults. At approximately 28.3% [2]. The situation is severe in East Asia, especially among students and young adults, with a prevalence of almost 90% [2,3,4,5,6,7,8,9]. It is worth noting that high myopia is a pathological condition that can lead to many diseases, such as presenile cataracts, glaucoma, macular degeneration, retinal detachment and posterior scleral staphyloma, which are the leading causes of blindness in high myopia [11,12,13,14,15]

Methods

Results

Discussion

Conclusion