Single-Nucleotide Polymorphisms in Oxidative Stress-Related Genes and the Risk of a Stroke in a Polish Population—A Preliminary Study

Abstract

The present preliminary case-control study was undertaken to detect the potential association of six single nucleotide polymorphisms (SNPs) in oxidative stress-related genes: SOD2 (c.47T > C; rs4880), CAT (c.-89A > T; rs7943316), GPX4 (c.660T > A; rs713041), NOS1 (g.117803515C > T; rs1879417) and NOS2 (c.1823C > T; rs2297518 and c.-227G > C; rs10459953) and the occurrence of a stroke. The SNPs were determined using the TaqMan® Allelic Discrimination Assay in 107 patients with strokes and 107 age- and sex-matched individuals who had not experienced cerebrovascular accidents. The T alleles of the rs4880 were positively correlated with a stroke (bootstrap OR 1.31; 1.07–1.59 95% CI). In the case of the rs713041, an association with the T allele was found (bootstrap OR 1.36; 1.12–1.67). In addition, the occurrence of a stroke was associated with the presence of the C allele of the rs1879417 (bootstrap OR 1.32; 1.09–1.61). We also found that the C/C genotype and C allele of the rs2297518 increased the risk of a stroke (bootstrap ORs 7.00; 4.34–11.29 and 4.96; 3.88–6.34, respectively). Moreover, the C allele of the rs10459953 was associated with an increased occurrence of this disease (bootstrap OR 1.31; 1.08–1.60). These results indicated that genetics variants in the SOD2, GPX4, NOS1 and NOS2 might be associated with susceptibility to strokes in the Polish population.

Influence of the SOD2 A16V gene polymorphism on alterations of redox markers and erythrocyte membrane fatty acid profiles in patients with multiple chemical sensitivity

“…Notably, the heterozygous AV16 genotype seems to represent the better conditions for optimal enzyme activity of mitochondrial Mn-SOD, given the highest frequency observed in our study cohorts, that is in line with findings from several studies carried out in Italian and Caucasian populations ( 23 , 37-41 ). Most importantly, these same studies, and several others not cited here, suggested that the SOD2 AA16V (rs4880) polymorphism may have an impact on acute and chronic oxidative-related damage, and increase the susceptibility to various oxidative stress-related pathological conditions, such as pregnancy complications, cardio- and cerebrovascular disorders, cancer, glaucoma, diabetes ( 37 , 38 , 40-43 ), and even accelerates telomere shortening with age ( 39 ).…”

The Role of rs713041 Glutathione Peroxidase 4 (GPX4) Single Nucleotide Polymorphism on Disease Susceptibility in Humans: A Systematic Review and Meta-Analysis

“…The selected studies reported data related to GPX4 (rs713041) SNP linked to nineteen diseases; these included breast cancer [ 16 , 17 ], colorectal cancer [ 35 , 36 ], prostate cancer [ 20 , 37 ], laryngeal cancer [ 19 ], lung cancer [ 19 ], pre-eclampsia [ 38 , 39 ], hypertension [ 40 ], ischemic stroke [ 41 ], endometriosis [ 22 ], recurrent miscarriage [ 42 ], pregnancy loss [ 43 ], Graves’ disease [ 23 ], Hashimoto disease [ 23 ], acute pancreatitis [ 44 ], Alzheimer’s disease [ 24 ], depression [ 25 ], multiple sclerosis [ 26 ], type 2 diabetes mellitus [ 45 ] and Kashin-Beck disease [ 46 ]. Regarding demographics, from the twenty-one reports, one study was performed on Arabs [ 45 ], two reports on Russians [ 42 , 43 ], one report on Caucasian Americans [ 36 ], one report on South Americans [ 24 ], five reports on Asians, Han Chinese population [ 22 , 23 , 38 , 39 , 46 ], and the other eleven reports on Europeans [ 16 , 17 , 19 , 20 , 25 , 26 , 35 , 37 , 40 , 41 , 44 ]. Genotyping was carried out by different methods, two reports using real-time PCR [ 19 ], one KASPar [ 35 ...…”

“…Regarding demographics, from the twenty-one reports, one study was performed on Arabs [ 45 ], two reports on Russians [ 42 , 43 ], one report on Caucasian Americans [ 36 ], one report on South Americans [ 24 ], five reports on Asians, Han Chinese population [ 22 , 23 , 38 , 39 , 46 ], and the other eleven reports on Europeans [ 16 , 17 , 19 , 20 , 25 , 26 , 35 , 37 , 40 , 41 , 44 ]. Genotyping was carried out by different methods, two reports using real-time PCR [ 19 ], one KASPar [ 35 ], two reports MassArray [ 23 , 37 ], four reports PCR-RFPL [ 42 , 43 , 44 , 46 ] and the remaining twelve reports using TaqMan assay [ 16 , 17 , 20 , 22 , 24 , 25 , 26 , 36 , 38 , 39 , 40 , 41 , 45 ]. The characteristics, genotyping methods, sample size and genotype frequency of the twenty one reports are presented in Table 1 .…”

Variation of genes encoding nitric oxide synthases and antioxidant enzymes as potential risks of multiple sclerosis development: a preliminary study

“…Interestingly, according to data provided by NCBI dbSNP, 56,540 SNPs in NOS1 have been registered, while NOS2 has 16,601 various polymorphisms. Numerous polymorphisms, occurring within this gene [especially g.117803515 C > T— NOS1 (rs1879417) and c.1823C > T— NOS2 (rs2297518)], play an essential role in the development mechanism of various diseases, including Fanconi anemia, depression, stroke, gastric, and urinary bladder cancer 35 , 37 – 40 . The first analyzed polymorphism in our study is g.117803515 C > T— NOS1 (rs1879417) localized in the intron on chromosome 12, at position 12q24.22.…”