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

Yana V. Bocharova
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引用次数: 2

Abstract

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.
谷氨酸半胱氨酸连接酶催化亚基基因多态性与缺血性脑卒中临床特征的关系
活性氧的产生及其中和之间的不平衡是缺血性卒中(IS)和随后的脑组织损伤中涉及的氧化应激的核心。本研究旨在探讨谷氨酸半胱氨酸连接酶催化亚基基因常见多态性变异对缺血性脑卒中患者脑损伤程度和临床表现的影响。使用MassARRAY-4分析仪对589例缺血性卒中幸存者进行GCLC基因的6个单核苷酸多态性(snp)基因分型,包括rs12524494、rs17883901、rs606548、rs636933、rs648595和rs761142。研究发现,rs636933-G/A-A/A基因型(r = 0.009)和rs761142-A/C-C/C基因型(r = 0.015)与脑损伤大小增大有关。基因型rs12524494-G/G (r = 0.05)和rs606548-T/T (r = 0.003)与2次或以上IS发作的风险相关。基因型rs17883901-G/A与IS早发相关(χ = 0.004)。该研究揭示了GCLC snp与缺血性脑卒中临床表现的多重关联。因此,GCLC多态性是影响缺血性脑卒中患者脑损伤大小的重要DNA标记,与发病年龄、既往卒中次数和疾病临床表现相关。
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