Association of PDGFRA gene polymorphisms and early-onset myopia in South Sumatera, Indonesia

Abstract

Purpose: Myopia is a refraction error that may be caused by corneal curvature (CC) anomaly. The platelet-derived growth factor receptor alpha (PDGFRA) gene was determined to have an effect on the CC. The purpose of this study was to find a correlation between single nucleotide polymorphisms (SNP) in the PDGFRA gene and early-onset myopia in people of South-Sumatera origin, a part of an Indonesian ethnic group. Design: Using a random sampling method, this population-based, case-control study included 100 subjects aged 18-40 years from Palembang, South Sumatera, Indonesia. Methods: Visual acuity was measured by Snellen chart and the CC was measured by manual keratometer. DNA sample from buccal swab was investigated with Amplification Refractory Mutation System (ARMS) polymerase chain reaction (PCR) and visualized in agarose gel. Results: Median of CC for the right eye was 7.73 (7.07-8.63) mm and the left eye was 7.73 (7.04-8.69) mm. There was no difference between CC in myopic and normal subjects. Distribution of mutant allele in rs17084051, rs7677751, rs7682912, and rs2114039 were higher in myopic subject compare to those of normal control. Significant association between PDGFRA gene polymorphism and early-onset myopia was found only in rs17084051 (p = 0.009) and rs7677751 (p = 0.001). Conclusions: Mutant type allele A of rs17084051 and mutant type allele T of rs7677751 of PDGFRA gene polymorphism are associated with early-onset myopia in South-Sumatera tribes in this study.