Association of PDGFRA Gene Polymorphisms and Early-onset Myopia in South Sumatera

Abstract

Background: Myopia is a refractive error that may caused by corneal curvature(CC) anomaly. The purpose of this study was to identify platelet-derived growth factor receptor alpha (PDGFRA) gene and to find a correlation between sex, family history, near work, lighting, outdoor activity, CC, PDGFRA gene polymorhisms, and early-onset myopia in South Sumatera tribes. Method: Using a random sampling method, population-based, cross sectional study included 100 subjects aged 18-40 years from Palembang, South Sumatera, Indonesia. Visual acuity was measured by Snellen Chart and CC was measured by manual keratometer. DNA sample from buccal swab was investigated with Amplification Refractory Mutation System PCR and visualized in agarose gel. Result: Females were 4.21 times more likely to have early-onset myopia than male. Subjects with parental, sibling, and paternal grandparent history of myopia were 6.64, 3.55 and 3.58 times more likely to have early-onset myopia, respectively. Reading ≥6 times/week, reading >2 hours/day and television viewing distance ≤60 cm were 2.95, 2.85 and 19.13 times more likely to have early-onset myopia, respectively. Median of corneal curvature for right eye was 7.73 (7.07-8.63) mm and left eye was 7.73 (7.04-8.69) mm. There were no difference between CC in myopic and normal subjects. Distribution of mutant allele in rs17084051, rs7677751, rs7682912, and rs2114039 were bigger in myopic subject compare to normal subject. Significant p value for association between PDGFRA gene polymorphism and early-onset myopia was found only in rs17084051 (p = 0.009) and rs7677751 (p = 0.001). Conclusion: Mutant type allele A of rs17084051 and mutant type allele T of rs7677751 PDGFRA gene polymorphism, female sex, parental history of myopia, paternal grandparent history of myopia, sibling history of myopia, frequency of reading ≥6 times per week, duration of reading > 2 hours per day, and television viewing distance ≤60 cm are associated with early-onset myopia in South Sumatera tribes. Keywords: myopia, early-onset myopia, polymorphism, SNP, PDGFRA, corneal curvature, myopia risk factor, Indonesia, South Sumatera