Association of MTOR and PDGFRA gene polymorphisms with different degrees of myopia severity

This study aims to investigate the associations of SNPs in the mammalian target of rapamycin ( MTOR ) and the platelet derived growth factor receptor alpha ( PDGFRA ) genes with different degrees of myopia severity in Han and Zhuang populations. The SNPs of MTOR (rs1057079, rs1064261, and rs2536) and PDGFRA (rs1800812, rs35597368, rs4358459, rs6554162, and rs7677751) were analyzed among 1347 patients with myopia (849 patients with high myopia and 498 patients with mild to moderate myopia) and 453 controls without myopia in Guangxi, China (collected 2016–2018). Genetic model association analysis was performed on each SNP in different myopia subgroups. The associations of rs1057079 and rs1064261 with mild to moderate myopia were observed under the dominant models (rs1057079: OR = 1.324, 95%CI: 1.005–1.744, P = 0.046; rs1064261: OR = 1.597, 95%CI: 1.099–2.319, P = 0.014). However, the association of SNP rs1057079 could not withstand multiple correction. The number of adverse genotypes in each sample was counted. Results showed that in the high myopia group, the levels of risk of myopia in patients carrying three to four and five to eight adverse genotypes were 1.734 and 2.062 times the level of risk in patients carrying two or lower genotypes, respectively. After the stratified analyses of Han and Zhuang populations, the Zhuang populations consistently had high frequencies of myopia. This study provides evidence suggesting that the MTOR and PDGFRA genes are associated with different degrees of myopia severity and have gene–gene interactions. In addition, this study discovered a new SNP of MTOR (rs1064261) that is associated with myopia. Thus, further longitudinal studies are warranted. • Confirmatory studies on different ethnicities. • Investigating association of the selected SNPs with high myopia and mild to moderate myopia. • Adjusting for gender, ethnic group, age, BMI, electronic product usage time, learning time, and time of outdoor activity. • The first to investigate concurrently the association of MTOR and PDGFRA with different levels of myopia severity.