Abstract
Purpose :
This study aimed to determine the association of PDGFRA gene variants with myopia in southern Chinese population.
Methods :
Total 2,877 unrelated Han Chinese subjects from southern Chinese region were recruited, including 1,722 myopia patients and 1,155 gender-matched control subjects. The myopia patients were divided into high, moderate and mild myopia sub-groups according to their spherical equivalence. Five single nucleotide polymorphisms (SNPs; rs7682912, rs2114039, rs7677751, rs2307049 and rs7660560) of the PDGFRA gene were genotyped in all study subjects by the TaqMan assay. The association, odds ratio (OR) and 95% confident intervals (CI) of the PDGFRA variants were evaluated and calculated in 6 genetic models.
Results :
All PDGFRA variants, except rs7682912 (pHWE = 0.046) and rs2307049 (pHWE = 0.039), followed the Hardy-Weinberg equilibrium. The variants rs7677751 (homozygous: p = 0.007; OR = 1.62, 95%CI: 1.14-2.30) and rs2114039 (homozygous: p = 0.034; OR = 0.68, 95%CI: 0.48-0.97) were significantly associated with myopia. The rs7677751 variant was also significantly associated with mild myopia (homozygous: p = 0.009, OR = 3.60, 95%CI: 1.29-10.04) and high myopia (homozygous: p = 0.009; OR = 1.73, 95%CI: 1.14-2.62) in the sub-group analysis. In addition, the variants rs2114039 (homozygous: p = 0.027; OR = 0.60, 95%CI: 0.39-0.95) and rs7660560 (homozygous: p = 0.047; OR = 1.83, 95%CI: 1.00-3.34) were associated with moderate myopia.
Conclusions :
The PDGFRA gene variants were associated with myopia in southern Chinese population, indicating that PDGFRA could be involved in myopia development in southern Han Chinese population.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.