DOI: https://doi.org/10.22141/2309-8147.6.1.2018.172268

ASSOCIATION OF Ile105Val POLYMORPHISM OF GSTP1 GENE WITH PRIMARY OPEN-ANGLE GLAUCOMA

S. O. Rykov, L. V. Natrus, A. V. Burdey

Abstract


Introduction. The GSTP1 gene encodes the p-glutathione S-transferase, which infl uence on transformation of harmful substances into inactive compounds in the body. The mutation of the GSTP1 gene is characterized by the replacement of the adenine nucleotide with guanine, resulting in a change in the amino acid isoleucine to valine in the primary protein structure. Primary open-angle glaucoma (POAG) is a multifactorial disease in which the genetic factors are also important in the pathogenesis.
The purpose of research – to determine the role of Ile105Val polymorphism of GSTP1 gene in the development of primary open-angle glaucoma.
Materials and methods. The genotyping was carried out on 172 patients with POAG in I–IV stages, all patients were divided into 4 groups: the fi rst group included patients with the initial stage of the POAG, the 2nd group – with developed POAG, the 3rd group –with POAG progression and narrowing of the fi eld of vision, the 4th group – with the terminal stage of POAG and development of blindness. 98 patients were selected to the control group, none of which had a diagnosis of “glaucoma”. Analysis of the Ile105Val polymorphism of GSTP1 gene was made by polymerase chain reaction method with TaqMan Mutation Detection Assays Life-Technology (US) test systems. Statistical analysis of the data was used with package MedStat and MedCalc v.15.1 (MedCalc Software bvba).
Results. The variable frequency of the Ile105Val polymorphism of GSTP1 gene was found in patients with POAG.
The association of the mutant homozygous Val / Val genotype with the development of POAG was detected in the investigation of Ile105Val polymorphism of GSTP1 gene (χ2=7.16, p=0.03; OR=2.71, CI=117–2.54), this link kept for the 3rd and 4th stages of stratifi ed glaucoma by the stages. The association of Val allele of the GSTP1 gene with the development of POAG was established in the analysis between the “case-control” groups (p=0.01). The presence of Val allele apparently increased the probability of glaucoma (χ2=7.6, p=0.01; OR=1.73, CI=1.17–2.54), mainly for the 2nd and 3rd stages of glaucoma.
Conclusion. Our data showed the role of genetic factors for the development of POAG, the link between homozygous Val / Val genotype and Val mutant allele with the glaucomatous process was defi ned.


Keywords


primary open-angle glaucoma, Ile105Val polymorphism, GSTP1 gene

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