The Association between polymorphism at 3’UTR of the PAX6 gene and Myopia

Abstract

Background. Myopia is a significant and increasing public health problem over time. It′s known that genetic factors in disease development are important [1]. A genomewide linkage study reveals that PAX6 gene is a candidate gene for the development of myopia [2, 3]. It′s reported that the 3′UTR single nucleotide polymorphism (SNP) rs662702 of the PAX6 is associated with extreme myopia [4]. This study aimed to find associations between polymorphism at 3‵UTR of the PAX6 gene (rs662702) and myopia in Lithuania. Methods. We evaluated 418 individuals (195 with myopia and 223 healthy). The study participants were between the ages of 18 and 40 years. SNP of the PAX6 were assessed by using the Applied Biosystems 7900HT Real-Time Polymerase Chain Reaction System. Results. We found that 90.3% of the subjects had TT genotype, CT – 9.69%, and only one had a CC genotype in the miopia group with low, moderate and high degree. In the control group, 87.9% of the subjects had TT genotype and 12.1 % CT. Repeated calculations by separating only moderate and high degree myopia showed significant differences between CC and CT genotypes of PAX6 gene (p<0.001). 71.4% of the subjects had TT genotype, 28.6% CT and 97.1% TT genotype and 2.9% CT in myopia and control groups, respectively. The odds ratio having moderate and high degree myopia for individuals with a CT genotype was 13.6 (2.865-64.55) 95% C.I. versus TT genotype (p=0.001). Conclusions. Significant differences between the PAX6 gene TT and CT genotypes were detected only higher degree myopia. The risk C allele increases the risk for myopia.