Evaluating the Association between Pathological Myopia and SNPs in RASGRF1. ACTC1 and GJD2 Genes at Chromosome 15q14 and 15q25 in a Chinese Population

Abstract

Background: This study investigated the association of the 27 SNPs located in RASGRF1. GJD2, and ACTC1 genes with pathological myopia in a Chinese Han population.

Methods: Myopia patients were stratified according to whether they did (n = 274) or did not (n = 131) have myopic macular degeneration (MMD). The SNPbrowser software was used to identify specific SNPs for analysis and minimal allele frequency of >20%, and a pairwise r² < 0.85 were genotyped using MALDI-TOF mass spectrometry.

Results: Before controlling for false discovery rate, the frequency of the rs1867315 C/C genotype compared with healthy controls was lower in the myopia group (p = 0.006) and in myopia patients without macular degeneration (p = 0.019). The frequency of the rs670957A/A genotype was also lower in patients without MMD compared with controls (p = 0.045). For rs2070664, the frequency of the A allele was higher in the patients with MMD compared to those without MMD (p = 0.032). After controlling for a false discovery rate of 5%, there was no significant difference in genotype and allele frequencies between these groups.

Conclusion: In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia, suggesting that SNPs included in our study have no or a limited role in causing pathologic myopia in this Chinese Han population.

• Chinese
• genotype
• macular degeneration
• myopia
• pathological
• single nucleotide polymorphism

Acknowledgments

We want to thank Jinhui Dai, MD, Xiaomei Qu, MD, Xiaoying Wang, MD and Hong Liu, MD for their enthusiastic help in patient recruitment. The authors would also like to thank Shanghai Benegene Biotechnology Co., Ltd. for their outstanding technical support.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

This study was supported by the Biological Medicine Key Project of the Science and Technology Commission of Shanghai Municipality [No. 10411962200].