CDKN2B-AS1 gene polymorphism is associated with primary open-angle glaucoma in women of the Central Black Earth Region, Russia

Eliseeva NV, Ponomarenko IV, Churnosov MI
About authors

Belgorod State National Research University, Belgorod, Russia

Correspondence should be addressed: Mikhail I. Churnosov
Pobedy St., 85, Belgorod, 308015; ur.ude.usb@vosonruhc

About paper

Author contribution: Eliseeva NV — sample design, molecular genetic testing, manuscript writing; Ponomarenko IV — molecular genetic testing, statistical analysis, manuscript writing; Churnosov MI — study concept, manuscript editing; the final version of the manuscript was read and approved by all authors.

Compliance with ethical standards: the study was approved by the Ethics Committee of the Institute of Medicine of the Belgorod State University (protocol № 4 dated May 19, 2015); the informed consent to participation was submitted by all study participants.

Received: 2021-04-21 Accepted: 2021-05-24 Published online: 2021-05-28

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).

Keywords: polymorphism, women, primary open-angle glaucoma, CDKN2B-AS1, associations