The characterization of high myopic-associated SNPs in Asiatic populations in an European cohort of myopic maculopathy.

Abstract

Purpose : To evaluate the contribution of some of the most important SNPs associated to high myopia in Asians to the development of myopic maculopathy (MM) in an European population.

Methods : A case-control prospective study with 250 unrelated highly myopic Spanish Caucasian patients and 181 non-myopic controls were recruited from various centers of OFTARED (RD16/0008). Highly myopic patients were divided into two groups. One group with MM category 0 or 1 at least in one eye, which was used as myopic maculopathy control; and the other group, with MM category 2, 3, 4 or any “plus” lesion, according to Ohno-Matsui et al and Ruiz-Medrano et al classification systems. Genomic DNA was extracted from oral swabs. A set of 6 SNPs in 5 genes were genotyped by Real-time PCR using validated TaqMan assays: SCO2 (rs74315510), CCDC102B (rs11873439) Cromosome 15 (rs634990), PAX6 (rs644242) and BLID (rs577948). Univariate logistic regression analysis adjusted for age, sex, cholesterol, diabetes and hypertension was performed for each allele and genotype frequency analysis.

Results : All the studied SNPs were in Hardy-weinberg equilibrium (p>0.05). The allelic and genotype frequencies of all studied SNPs did not show statistical differences (p>0.05) between MM group and control groups.

Conclusions : None of the studied SNPs associated in the development of high myopia and myopic maculopathy in Asiatic populations showed any relation with the development of myopic maculopathy in an European cohort. The relationship between genotype/race seems to be very important along with environmental factors in the development of this disease.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.