Polymorphisms rs7865618 and rs2157719 of the CDKN2B-AS1 gene and the development of primary open-angle glaucoma in women from the Central Region of Russia

Abstract

In the past decade, a genome-wide search for glaucoma associations has identified the associated polymorphic loci with glaucoma. Goal: replicative studies of associations of significant polymorphic loci rs7865618 and rs2157719 of the CDKN2B-AS1 gene with the development of primary open-angle glaucoma in women from the Central Black Earth Region of the Russian Federation. The object of the study was a sample of 290 patients with glaucoma, and 220 people in the control group. It was found that in patients with female glaucoma the frequency of the AA genotype of the polymorphic locus rs7865618 of the GDKN2B-AS1 gene was 34.98%, AG - 46.64%, GG - 13.37%, minor allele A - 41.70%. In women of the control group, the following frequencies of the rs7865618 polymorphic locus were determined: AA - 28.30%, AG - 51.42%, GG - 20.28%, minor allele A - 45.99%, respectively. For rs2157719 of the GDKN2B-AS1 gene among glaucoma patients, the frequency of the AA genotype was 39.01%, AG - 48.40%, GG - 18.72%, the minor G allele was 42.49%, and in the women in the control group, AA - 32.88%, AG - 48.40%, GG - 18.72%, minor allele G - 42.49%, respectively. Conclusions. Polymorphisms rs7865618 and rs2157719 of the GDKN2B-AS1 gene are not associated with primary open-angle glaucoma in women of the Central Region of the Russian Federation.