Полиморфизм гена CDKN2B-AS1 ассоциирован с первичной открытоугольной глаукомой у женщин Центрального Черноземья России

Nv Eliseeva,Iv Ponomarenko,Mi Churnosov

doi:10.24075/brsmu.2021.023

Abstract

Primary open-angle glaucoma (POAG) is a complex disorder. Genetic factors play a vital part in POAG. The prevalence of POAG is gender-specific: the disorder is more often diagnosed in women. Results of the genome-wide association studies (GWAS) strongly support the association of CDKN2B-AS1 gene polymorphism with POAG. The aim was to perform the replicative study of CDKN2B-AS1 gene polymorphic loci association with POAG in women of the Central Black Earth Region, Russia. Five CDKN2B-AS1 gene single nucleotide polymorphisms (SNP), rs1063192, rs7865618, rs2157719, rs944800, and rs4977756, were genotyped in 290 female patients with POAG and 220 female controls. The differences in the haplotype block structure between the POAG patients (no haplotype blocks) and the controls (haplotype block consisting of three SNPs, rs1063192, rs7865618 and rs2157719, was detected) for the set of studied CDKN2B-AS1 SNPs were revealed using the Solid Spine algorithm (D’ > 0.8). CDKN2B-AS1 gene haplotype GGG rs1063192–rs7865618–rs2157719 is associated with POAG in women. This haplotype is considered a protective factor of the disorder (OR = 0.66; p = 0.006, рperm = 0.037).

Highlights

Primary open-angle glaucoma (POAG) is a complex disorder
Population genetic analysis showed that distribution of all five CDKN2B-AS1 single nucleotide polymorphisms (SNP) genotypes in POAG patients and controls satisfied the Hardy–Weinberg equilibrium (Table 2)
Comparison of patients with POAG and female controls based on five CDKN2B-AS1 gene SNPs revealed the differences in linkage disequilibrium between the studied loci, and the related differences in haplotype block structure

Summary

Introduction

Primary open-angle glaucoma (POAG) is a complex disorder. CDKN2B-AS1 gene haplotype GGG rs1063192–rs7865618–rs2157719 is associated with POAG in women. This haplotype is considered a protective factor of the disorder (OR = 0.66; p = 0.006, рperm = 0.037). В. Елисеева — формирование выборки, молекулярно-генетические исследования, подготовка рукописи; И. В. Пономаренко — молекулярно-генетические исследования, статистическая обработка данных, подготовка рукописи; М. The disorder is almost 1.5 times more often diagnosed in women [1,2,3]

Methods

Discussion

Conclusion