Associations between glutamate cysteine ligase catalytic subunit gene polymorphisms and clinical characteristics of ischemic stroke

Bocharova YA1,2
About authors

1 Belgorod State National Research University, Belgorod, Russia

2 Kursk Regional Clinical Hospital, Kursk, Russia

Correspondence should be addressed: Yulia A. Bocharova
Sumskaya, 45a, Kursk, 305007; ur.liam@30_a_i_l_u_y

About paper

Acknowledgements: the author thanks Polonikov AV, Azarova YuE, Klyosova EYu, Bykanova MA and Bushueva OYu of the Research Institute of Genetic and Molecular Epidemiology (Kursk State Medical University) for their help in conducting molecular genetic studies.

Compliance with ethical standards: the study was approved by the Ethics Committee of Kursk State Medical University (Protocol № 5 dated June 25, 2012); all study participants gave voluntary informed consent to participate.

Received: 2021-01-21 Accepted: 2021-02-06 Published online: 2021-02-23

An imbalance between the production of reactive oxygen species and their neutralization lies at the core of oxidative stress implicated in ischemic stroke (IS) and the subsequent brain tissue damage. The aim of this study was to investigate the effects of common polymorphic variants of the glutamate cysteine ligase catalytic subunit gene on the extent of brain damage and clinical manifestations in patients with ischemic stroke. A total of 589 ischemic stroke survivors were genotyped for 6 single nucleotide polymorphisms (SNPs) of the GCLC gene, including rs12524494, rs17883901, rs606548, rs636933, rs648595 and rs761142, using a MassARRAY-4 analyzer. The study found that genotypes rs636933-G/A-A/A (р = 0.009) and rs761142-A/C-C/C (р = 0.015) were associated with an enlargement of the cerebral lesion size. Genotypes rs12524494-G/G (р = 0.05) and rs606548-T/T (р = 0.003) were associated with a risk of 2 or more IS episodes. Genotype rs17883901-G/A was associated with early onset of IS (р = 0.004). The study revealed multiple associations of GCLC SNPs with the clinical manifestations of ischemic stroke. Thus, GCLC polymorphisms are important DNA markers affecting the size of the cerebral lesion in patients with ischemic stroke and are associated with age at onset, the number of past strokes and the clinical manifestations of the disease.

Keywords: single nucleotide polymorphism, ischemic stroke, glutathione, cerebral infarction, redox homeostasis, glutamate cysteine ligase