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DOI: 10.18413/2658-6533-2020-6-2-0-4

A replicative study of the associations of polymorphic loci of the LOXL1 and CDKN2B-AS1 genes with the development of primary open-angle glaucoma in men of the Central Black Earth Region of the Russian Federation

Background: Studying the genetic foundations of primary open-angle glaucoma (POAG) is an urgent task due to the fact that glaucoma is the main cause of low vision and blindness among people of working age. Over the past decade, full-genomic studies (GWAS) of primary open-angle glaucoma have revealed more than 150 candidate genes associated with the development of glaucoma. At the same time, replicative studies of GWAS-significant loci for POAG in various ethno-territorial groups are of great importance. The aim of the study: To conduct a replicative study of the association of GWAS-significant polymorphic loci of the LOXL1 and GDKN2B-AS1 genes with the development of primary open-angle glaucoma in men of the Central Black Earth Region of the Russian Federation. Materials and methods: The work was performed in the design of "patients-control." The study included 246 men with POAG and 176 people in the control group. The material for molecular genetics research was DNA isolated from the venous blood of the studied individuals using the standard method of phenol-chloroform extraction. GWAS polymorphic loci of the GDKN2B-AS1 genes (rs7865618, rs2157719, rs1063192, rs944800, rs4977756) and LOXL1 (rs893818, rs4886776) that were significant for POAG were selected for the study. Genotyping was carried out using the polymerase chain reaction of DNA synthesis by allele discrimination. Results: The polymorphic loci rs893818 LOXL1 and rs4886776 LOXL1 were found to be associated with the development of primary open-angle glaucoma in men: the risk factors for POAG are the genotypes GG rs893818 LOXL1 (OR = 1,62; p = 0,025) and GG rs4886776 LOXL1 (OR = 1,59; p = 0,030). Alleles A of these polymorphic loci are of protective importance in the formation of the disease (OR = 0, 59; p = 0,003 for rs893818 and OR = 0,63; p = 0,009 for rs4886776). Conclusion: Polymorphic loci of the LOXL1 gene – rs893818 and rs4886776 are associated with the development of primary open-angle glaucoma in men of the Central Black Earth Region of the Russian Federation.

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