NQO1 polymorphism and susceptibility to ischemic stroke in a Chinese population
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ABSTRACT:
SUBMITTER: Wang M
PROVIDER: S-EPMC11342592 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
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Project description:PurposeNAD(P)H: Quinone Oxidoreductase 1 gene (NQO1) polymorphism is associated with the risk of cardiovascular disease. This study was designed to investigate the relationship between NQO1 gene polymorphism and ischemic stroke susceptibility in Chinese Han nationality.Patients and methodsOne hundred and forty-one patients diagnosed with ischemic stroke and 139 matched control groups were recruited in this study. The polymorphism distribution of rsl800566 locus and rs10517 locus of NQO1 gene was genotyped via TaqMan assay, and the concentration of Oxidized low-density lipoprotein (ox-LDL) in the blood of the subjects was detected by enzyme linked immunosorbent assay (ELISA). The relationship between the polymorphism distribution and the susceptibility to ischemic stroke was evaluated.ResultsThe frequency distribution of the three genotypes of NQO1 rs1800566 between the case group and the control group was statistically significant, and cases carrying CT and TT genotype were less likely to suffer from ischemic stroke. Compared with individuals carrying T allele, C allele carriers have higher risk of ischemic stroke. However, there was no significant difference in frequency distribution among the three genotypes of NQO1 rs10517 between controls and patients.ConclusionThe NQO1 rs1800566 C allele may be a novel marker associated with ischemic stroke susceptibility in Chinese Han population. Polymorphism of rsl800566 locus in NQO1 gene may be protective against ischemic stroke risk.
| S-EPMC9527027 | biostudies-literature
Project description:Interleukin-18 gene promoter polymorphisms are potential risk factors for ischemic cerebrovascular disease, and the -607C allele may increase ischemic stroke risk in the Han Chinese population. In the present study, we recruited 291 patients with ischemic cerebrovascular disease from the Affiliated Hospital of Qingdao University Medical College, China, and 226 healthy controls. Both patients and controls were from the Han population in northern China. Immunoresonance scattering assays detected increased serum amyloid A protein, C-reactive protein, and interleukin-18 levels in ischemic cerebrovascular disease patients compared with healthy controls. Analysis of the -607C/A (rs1946518) polymorphism in the interleukin-18 gene promoter showed ischemic cerebrovascular disease patients exhibited increased frequencies of the CC genotype and C alleles than healthy controls. Genotype and allele frequencies of the interleukin-18 -137G/C (rs187238) polymorphism and the -13T/C (rs11024595) polymorphism in the 5'-flanking region of serum amyloid A, showed no significant difference between the two groups. Multivariate logistic regression analysis on the interleukin-18 promoter A/C genetic locus, for correction of age, gender, history of smoking, hypertension, diabetes mellitus, hypercholesteremia, and an ischemic stroke family history, showed ischemic cerebrovascular disease risk in individuals without the A allele (C homozygotes) was 2.2-fold greater than in A allele carriers. Overall, our findings suggest that the -13T/C (rs11024595) polymorphism in the 5'-flanking region of serum amyloid A has no correlation with ischemic cerebrovascular disease, but the C allele of the -607C/A (rs1946518) polymorphism in the interleukin-18 promoter is a high-risk factor for ischemic cerebrovascular disease in the Han population of northern China. In addition, the A allele is likely a protective gene for ischemic cerebrovascular disease.
| S-EPMC4145970 | biostudies-literature
Project description:BackgroundIschemic stroke (IS) is a commonly seen cerebrovascular disease which seriously endangers the health of middle age and old people. However, its etiology and pathogenesis have not yet fully comprehended. miR-30 gene is a novel gene which may be involved in IS. However, no studies have investigated the relationship between IS and the single-nucleotide polymorphisms (SNPs) of miR-30. Therefore, this study examined the relationship between miR-30 polymorphisms (rs2222722, rs1192037, rs10095483 and rs16827546) and the risk of IS.MethodsTotally 248 IS patients and 230 age-, sex- and race-matched controls were involved in this study. Based on SNPscan technique, four polymorphisms (rs2222722, rs1192037, rs10095483 and rs16827546) were genotyped.ResultsThere exists a significant association between rs2222722 polymorphism and the risk of IS according to analyses of genotypes, models and alleles (GA vs. GG: adjusted OR = 1.616, 95% CI: 0.943-2.768, P = 0. 081); (AA vs. GG: adjusted OR = 2.447, 95% CI: 1.233-4.858, P = 0.011); dominant model: adjusted (OR = 1.806, 95% CI, 1.082-3.016, P = 0.024); (G vs. A: adjusted OR = 1.492, 95% CI: 1.148-1.939, P = 0.003). Besides, miR-30a expression was significantly higher in patients undergoing IS relative to that in controls (P < 0.05).ConclusionsTo conclude, the rs2222722 polymorphism of the miR-30 gene shows a significant relationship to elevate the risk of IS in Chinese population.
| S-EPMC11562358 | biostudies-literature
Project description:BackgroundIschemic stroke (IS) represents a major cause of morbidity and mortality across the globe. The aberrant expression of miR-365 has been found to be implicated in a wide array of human diseases, including atherosclerosis and cancer. Studies on single-nucleotide polymorphisms (SNPs) in miRNA genes can help gain insight into the susceptibility to the condition. This study aimed to examine the relationship between miR-365 SNPs and the risk of IS.MethodsThe study recruited 215 IS patients and 220 controls. The SNPscans genotyping was employed to genotype three polymorphic loci (rs121224, rs30230, and rs178553) of miR-365. The relative expression of miR-365 in peripheral blood mononuclear cells of the patients and controls was determined by using real-time quantitative PCR.ResultsThe miR-365 rs30230 polymorphism exhibited a significant association with the risk of developing IS (TC vs. CC: adjusted OR = 0.55, 95% CI: 0.33-0.92, P = 0.022; TT vs. CC: adjusted OR = 0.34, 95% CI: 0.14-0.85, P = 0.021; TC +TT vs. CC: adjusted OR = 0.51, 95% CI: 0.31-0.83, P = 0.007; T vs. C: adjusted OR = 0.57, 95% CI: 0.39-0.83, P = 0.004). Haplotype analysis revealed that the C-T-G haplotype was associated with a decreased risk of IS (OR = 0.68, 95% CI: 0.46-1.00, P = 0.047). Furthermore, miR-365 expression was significantly higher in IS patients than in controls (P < 0.001). Interestingly, patients with rs30230 TC or TT genotypes had lower miR-365 levels compared to their counterparts with CC genotypes (P < 0.001).ConclusionsThe miR-365 rs30230 polymorphism might bear an association with IS susceptibility in the Chinese population, and the rs30230 TC/TT genotype might be a protective factor against IS.
| S-EPMC10569467 | biostudies-literature
Project description:BackgroundExcision repair cross-complementing group 1 (ERCC1) was considered a potential candidate gene for ischemic stroke, and its polymorphisms might be associated with the susceptibility to ischemic stroke.MethodsA total of 513 patients with ischemic stroke and 550 control subjects were recruited. The expression levels of ERCC1 messenger RNA (mRNA) in peripheral blood mononuclear cells and its protein in plasma were detected by quantitative real-time PCR (qPCR) and enzyme-linked immunosorbent assay (ELISA), respectively. Rs3212986 polymorphism of ERCC1 was detected by PCR-restriction fragment length polymorphism (RFLP-PCR) and was confirmed by sequencing. The association between the ERCC1 rs3212986 polymorphism or its expression and ischemic stroke was further analyzed.ResultsThe ERCC1 mRNA level in patients with ischemic stroke was lower than that in the control group (P < 0.05). However, the ERCC1 protein level in patients with ischemic stroke was higher than that in the control group (P < 0.05). The A allele of rs3212986 was associated with increased ischemic stroke risk (OR = 1.287, 95% CI = 1.076-1.540, P = 0.006). The association between rs3212986 polymorphism and ischemic stroke susceptibility was found in both recessive (OR = 2.638, 95% CI = 1.744-3.989, P < 0.001) and additive models (OR = 1.309, 95% CI = 1.028-1.667, P = 0.031), respectively. Similar results were obtained in the recessive model (OR = 2.015, 95% CI = 1.087-3.704, P = 0.026) after adjusting for demographic information and other variables. Additionally, the level of ERCC1 mRNA in the CC/CA genotype was higher than that in the AA genotype (P < 0.05).ConclusionIt was suggested that the ERCC1 rs3212986 polymorphism was associated with ischemic stroke susceptibility in a Chinese Han population and that an A allele of rs3212986 was related to increased ischemic stroke risk. The altered ERCC1 expression level caused by the rs3212986 polymorphism might participate in the pathophysiological process of ischemic stroke.
| S-EPMC9878395 | biostudies-literature
Project description:Objective5-lipoxygenase-activating protein gene (ALOX5AP) has been recognized as a susceptibility gene for stroke. In this work, we explored the association of 6 ALOX5AP SNPs with cerebral infarction (CI) in a northeastern Chinese Han population, using a case-control design.MethodsA group of patients with cerebral infarction were randomly chosen as case group in northeastern Chinese Han population. Another comparative group of individuals without stroke were chosen as the control group. By utilizing TaqMan probe based real-time fluorescent PCR and DNA sequencing method, this study focused on 6 SNPs of ALOX5AP gene and analyzed the association with the hereditary susceptibility of cerebral infarction.ResultsWe found that, the rs9579646 G allele frequency was significantly associated with higher ischemic cerebral infarction. There was no significant difference of rs9551963, rs9315050, rs4769874, rs10507391 and rs4147064 genotype frequencies between the case and control group. Haplotype-based association analysis of the block involving rs9579646 and rs10507391 revealed that the increased risk of stroke was significantly associated with haplotype GT and GA.ConclusionThese results suggested that the genetic variants in ALOX5AP might be related to the risk of stroke in northeastern Chinese Han population. The SNP rs9579646 may be a diagnostic index of cerebral infarction.
| S-EPMC4723920 | biostudies-literature
Project description:BackgroundStroke is a serious cardiovascular disease and is also the leading cause of long-term disability in developing and developed countries. Because matrix metalloproteinase-9 (MMP-9) is associated with the risk of many cardiovascular diseases, we investigated the relationship between single nucleotide polymorphisms (SNPs) in MMP-9 and the risk of Ischemic stroke (IS) in a southern Chinese Han population.MethodsThis study included 250 stroke patients and 250 healthy controls. Genotyping was performed using the Agena MassARRAY system, and chi-squared tests and genetic models were used to evaluate the associations between MMP-9 SNPs and the risk of IS. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression adjusted for age.ResultsPolymorphism rs3787268 was associated with increased the risk of IS. Specifically, the genotype "G/A" significantly correlated with IS risk in the co-dominant model [odds ratio (OR) = 1.62; 95% confidence interval (CI) = 1.10-2.41; p = 0.035)], while genotypes "G/A" and "A/A" may increase the risk of IS based on the dominant model (OR = 1.62; 95% CI = 1.12-2.35; p = 0.0097). This SNP was also significantly associated with IS risk in the log-additive model (OR = 1.33; 95% CI = 1.03-1.70; p = 0.026). Conversely, haplotype "C/G" appears to reduce the risk of IS (OR = 0.71; 95% CI = 0.54-0.95; p = 0.019).ConclusionsOur study showed that the rs3787268 locus in the MMP-9 gene may increase risk of IS in a southern Chinese Han population and thus provide insight into the IS pathogenesis.
| S-EPMC6469199 | biostudies-literature
Project description:BackgroundStroke has a high fatality and disability rate, and is one of the main burdens to human health. It is thus very important to identify biomarkers for the development of effective approaches for the prevention and treatment of stroke. Connexin37 is an anti-inflammatory cytokine and is involved in chronic inflammation and atherosclerosis. Recent studies have found that CONNEXIN37 gene variations are associated with atherosclerosis diseases, such as coronary heart disease and stroke, but its association with stroke in distinct human populations remains to be determined. We report here the analysis of the association of the single nucleotide polymorphisms (SNPs) of CONNEXIN37 with ischemic stroke in Han Chinese population.MethodsTwo SNPs of CONNEXIN37 gene were analyzed in 385 ischemic stroke patients and 362 hypertension control patients using ligase detection reaction (LDR) method.ResultsLogistic regression analysis demonstrated that, AG and GG genotypes of SNP rs1764390 and CC genotype of rs1764391 of CONNEXIN37 were associated with an increased risk of ischemic stroke, and that G allele of rs1764390 is a risk factor for ischemic stroke. Further, we found that SNP rs1764390 and SNP rs1764391 in CONNEXIN37 were associated with ischemic stroke under additive/dominant model, and recessive/dominant model, respectively.ConclusionOur results indicate that CONNEXIN37 gene polymorphism is an ischemic stroke risk factor in Northern Han Chinese.
| S-EPMC5891898 | biostudies-literature
Project description:ObjectiveThe present study is to explore the association between NQO1 gene polymorphism and coronary heart disease (CHD) risk.MethodsThis research were selected 80 CHD patients as the observation group and 130 healthy people who participated in normal physical examination during the same period as the control group. NQO1 gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. In addition, we conducted a meta-analysis to summarize the results of three relevant previously published adult population studies on the association between NQO1 gene polymorphism and coronary heart disease (CHD) risk.ResultsThere were three genotypes (CC, CT, and TT) for NQO1 C609T polymorphism. The significant associations were found in TT genotype and T allele (all p<0.05). Specifically, People with the TT genotype have 2.06 times CHD risk as those with the CC genotype. And People with the T allele have 1.62 times CHD risk as those with the C allele. No significant association was found by any genetic models in the meta-analysis (all p >0.05).ConclusionNQO1 gene polymorphism increased the CHD risk in a Chinese population. Combined with individual gene polymorphism, the accuracy of risk assessment for CHD can be improved and individualized health education can be provided for CHD patients by nurses.
| S-EPMC10503550 | biostudies-literature
Project description:AimThe inflammatory marker C-reactive protein (CRP) has been strongly correlated with the risk of cardiovascular disease. Some single-nucleotide polymorphisms (SNPs) have been reported to be associated with serum CRP levels. In this study, we assessed the genetic association between SNPs within the CRP gene and ischemic and hemorrhagic stroke in the Han Chinese population.MethodsThis study comprises 564 ischemic stroke patients, 220 hemorrhagic stroke patients and 564 controls from the ethnic Han Chinese population in Wuhan. Four CRP SNPs, -757A>G (rs3093059), -717A>G (rs2794521), -286C>T>A (rs3091244) and +2147C>T (rs1205), were genotyped from patients using TaqMan assays.ResultsThe A allele frequency for the -717A>G polymorphism was significant higher in controls than in ischemic stroke patients (P=0.037), after adjustment for traditional risk factors (odds ratio 0.28; 95% CI 0.12-0.65; P=0.003), suggesting a protective effect for this allele against ischemic stroke. Haplotype analysis showed that the H3 (G-C-C) haplotype conferred a significantly increased risk of ischemic stroke (odds ratio 1.052, 95% CI 1.001-1.106: P=0.047). Neither CRP genotypes nor haplotypes showed an association with hemorrhagic stroke. However, the frequency for haplotype H5 (A-T-C) was significantly higher in ischemic stroke than hemorrhagic stroke patients (P=0.0003).ConclusionThese data suggest that the CRP gene -717A allele confers a protective effect against ischemic stroke. Furthermore, the H3 haplotype (G-C-C) is an independent risk marker for ischemic stroke, whereas the H5 haplotype (A-T-C) can be used as a prognostic marker of hemorrhagic stroke.
| S-EPMC4002404 | biostudies-literature