scholarly journals Superoxide dismutase gene polymorphism is associated with ischemic stroke risk in the Chinese Han population

2019 ◽  
Author(s):  
Yang Xitong ◽  
Yang Sulian ◽  
Xu Hongyang ◽  
Zhang Yuanyuan ◽  
wang guangming

Abstract Background:Stroke is a serious cardiovascular disease and a major cause of disability and death in both developed and developing countries. Superoxide dismutases (SODs ) are enzymes that catalyze the breakdown of superoxide into oxygen and hydrogen peroxide and play a key role in the antioxidant response. This study explored the relationship between single nucleotide polymorphisms (SNPs) in SOD genes and the risk of ischemic stroke (IS) in the Chinese Han population of Dali city.Methods: For this case-control study, we enrolled 144 IS patients and 128 healthy controls. The SNPs rs17880487 and rs80265967 of the SOD1 gene, rs4880 and rs284296 of the SOD2 gene, rs2695232 and rs7655372 of the SOD3 gene were detected via Taqman-polymerase chain reaction (PCR). Genotypes and allele frequencies of the two groups were compared. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression, and environmental factors were corrected with multivariate logistic regression analysis.Results: Rs7655372 of SOD3 was associated with a significantly increased risk of IS. Moreover, this the G and GA genotypes of SNP rs7655372 were associated with an increased risk of IS, whereas the A and GA genotypes were risk factors for IS. Furthermore, multivariate logistic regression analysis showed that fasting blood glucose level, red blood cell count, white blood cell count, low-density lipoprotein level, systolic pressure, diastolic pressure, and rs7655372 GA/GG were independent risk factors for IS.Conclusions: The SOD3 gene rs7655372 locus polymorphism is a risk factor for IS, and its frequency in the Chinese Han population of Dali City denotes that this population is at increased risk of IS.

2019 ◽  
Vol 95 (1120) ◽  
pp. 67-71 ◽  
Author(s):  
Lishan Chen ◽  
Hang Qian ◽  
Zhihuan Luo ◽  
Dongfeng Li ◽  
Hao Xu ◽  
...  

BackgroundCoronary artery disease (CAD) is the most frequent multifactorial disease worldwide and is characterised by endothelial injury, lipid deposition and coronary artery calcification. The purpose of this study was to determine the allelic and genotypic frequencies of two loci (rs2026458 and rs9349379) of phosphatase and actin regulator 1 (PHACTR1) to the risk of developing CAD in the Chinese Han population.MethodsA case–control study was conducted including 332 patients with CAD and 119 controls. Genotype analysis was performed by PCR and Sanger sequencing. Genetic model analysis was performed to evaluate the association between single nucleotide polymorphisms and CAD susceptibility using Pearson’s χ2 test and logistic regression analysis.ResultsThe GG genotype of rs9349379 represented 50% and 29% of patients with CAD and controls, respectively (p<0.001). The CC genotype of rs2026458 was more prevalent in the controls than in patients with CAD compared with TT genotype (OR=0.548, 95% CI 0.351 to 0.856, p=0.008). Logistic regression analyses revealed that PHACTR1 rs9349379 GG genotype was significantly associated with increased risk of CAD in the recessive model (OR=2.359, 95% CI 1.442 to 3.862, p=0.001), even after adjusting for age gender, hypertension, type 2 diabetes, hyperlipidaemia and smoking habit. Heterogeneity test proved that rs9349379’s risk effects on CAD were more significant among women.ConclusionsOur study indicate that the PHACTR1 rs9349379 polymorphism is associated with the increased risk for CAD in the female Chinese Han population.


2019 ◽  
Vol 25 ◽  
pp. 107602961986690 ◽  
Author(s):  
Yuqing Deng ◽  
Zhiqing Chen ◽  
Lili Hu ◽  
Zhenyan Xu ◽  
Jinzhu Hu ◽  
...  

Dilated cardiomyopathy (DCM) is increasingly indicated as a cause of cardioembolic syndrome, in particular, cardioembolic ischemia stroke. However, the potential risk factors for stroke among DCM patients remain under investigated. DCM patients hospitalized from June 2011 to June 2016 were included. The cases were defined as the group of DCM patients with stroke compared with those without stroke. Clinical characteristic data were collected and compared between the two groups including demographic data, complicated diseases, echocardiography index, and laboratory parameters and estimated glomerular filtration rate (eGFR). A multivariate logistic regression analysis model adjusted by sex and age was used to explore the related risk factors for stroke in DCM patients. A total of 779 hospitalized patients with DCM were included. Of these, 55 (7.1%) had experienced a stroke. Significantly lower eGFR levels (68.03 ± 26.22 vs 79.88 ± 24.25 mL/min/1.73 m2, P = .001) and larger left atrial diameters (45.32 ± 7.79 vs 43.25 ± 7.11 mm, P = .04) were found in the group of patients having DCM with stroke compared to those without stroke. When the eGFR was categorized as eGFR >60, 30<eGFR≤ 60 and eGFR ≤ 30, there were more patients with 30<eGFR≤ 60 (30.9% vs 17.7%) and eGFR≤ 30 (9.1% vs 3.3%) in the ischemic stroke group ( P = 0.003). A multivariate logistic regression analysis model adjusted by sex and age showed that 30 <eGFR≤60 (odds ratio [OR]: 2.07, 95% confidence interval [CI]: [1.05-4.07], P = .035) and eGFR≤30 (OR: 4.04, 95% CI: [1.41-11.62], P = .009) were statistically associated with ischemic stroke in patients with DCM. It is concluded that decreased eGFR is significantly associated with an increased risk of ischemic stroke in patients with DCM.


2017 ◽  
Vol 45 (6) ◽  
pp. 2042-2052 ◽  
Author(s):  
Yanzhe Wang ◽  
Fang Liu ◽  
Lei Li ◽  
Shumin Deng ◽  
Zhiyi He

Objective Given its effects on lipid metabolism, the apolipoprotein A1-C3-A5 ( APOA1-C3-A5) gene cluster is thought to play an important role in ischemic stroke pathogenesis. Here, we evaluated whether the APOA1-C3-A5 cluster is associated with ischemic stroke in the northern Chinese Han population. Methods This case–control study analyzed 812 patients with ischemic stroke and 844 healthy controls with regard to four APOA1-C3-A5 cluster promoter single nucleotide polymorphisms (SNPs), rs670, rs2854116, rs2854117, and rs662799, using the SNaPshot Multiplex sequencing assay. Potential associations among ischemic stroke, genotyping, and allele frequencies were assessed. Results APOA1 rs670 CT/TT genotypes, APOA5 rs662799 AG/GG genotypes, and the APOC3 rs2854116 CC genotype were associated with an increased risk of ischemic stroke according to multivariate logistic analysis after adjusting for confounding factors. A significantly increased risk for ischemic stroke was also identified among high-risk haplotypes (C-C-T-A and T-T-C-A) for rs670–rs2854116–rs2854117–rs662799. Conclusion This study showed that rs670, rs2854116, and rs662799 SNPs of the APOA1-C3-A5 cluster are associated with ischemic stroke in the northern Chinese Han population.


2022 ◽  
Vol 2022 ◽  
pp. 1-6
Author(s):  
Qiao Ying ◽  
Guixi Liu ◽  
Wenjun Zhou ◽  
Jianhua Lan ◽  
Jianhui Du ◽  
...  

Objective. To investigate the association between the rs13347 polymorphism of the CD44 gene and the risk of kidney stone disease (KSD) in the Han population of northeast Sichuan, China, so as to provide a theoretical basis for the treatment of KSD. Methods. We used PCR-restriction fragment length polymorphism (RFLP) technique to perform genotyping at rs13347 locus of the CD44 gene in the KSD group and the gontrol group. SNP Hardy-Weinberg equilibrium (HWE) testing was used to confirm the balance of genetic inheritance. Multivariate logistic regression analysis was used for the assessment of rs13347 polymorphism and the risk of developing KSD and to compare the relationship between the polymorphism of rs13347 and clinical characteristics of patients with KSD. Results. Genotypic results of rs13347 locus of the CD44 gene in the two groups were consistent with the SNP-HWE test, indicating the genetic balance. At the same time, multivariate logistic regression analysis indicated that subjects with CT and TT genotypes at rs13347 in the CD44 gene were more likely to have KSD, and there was a higher prevalence rate in males. Furthermore, carrying allele T at rs13347 was also a risk factor for KSD. In addition, people carrying CT and TT genotypes at rs13347 also have a significantly increased risk of relapsing KSD. Conclusion. The rs13347 polymorphism of the CD44 gene may be associated with the risk of KSD in the Han population of northeast Sichuan in China, and the recurrence rate of KSD in the carriers of CT and TT genotypes is higher.


2022 ◽  
Vol 12 ◽  
Author(s):  
Wan Wei ◽  
Xianjun Xuan ◽  
Jiahui Zhu ◽  
Tianwen Chen ◽  
Yudan Fang ◽  
...  

Objective: We performed this study to investigate whether the EDNRA gene rs1878406 C &gt; T polymorphism is associated with risk of large artery atherosclerosis (LAA) stroke in the Chinese Han population.Methods: Genotyping of rs1878406 was performed in 1,112 LAA stroke patients and 1,192 healthy controls. Multivariate logistic regression analyses were applied to assess the effect of the rs1878406 C &gt; T polymorphism on susceptibility to LAA stroke.Results: A significant increase of LAA stroke risk was found in the recessive model (TT vs. CC/TC, OR = 1.74, 95% CI = 1.23–2.48, p = 0.002) and co-dominant model (TC vs. CC, OR = 1.06, 95% CI = 0.89–1.27, TT vs. CC, OR = 1.79, 95% CI = 1.25–2.55, p = 0.006). However, the interaction between age and genotypes of rs1878406 was not statistically significant, and no significant interactive effect was observed between the rs1878406 C &gt; T polymorphism and sex (p &gt; 0.05).Conclusion: The rs1878406 C &gt; T polymorphism is associated with increased risk of LAA stroke in the Chinese Han population.


2021 ◽  
Author(s):  
Dongyun GOU ◽  
Sha HE ◽  
Mengwei Yuan ◽  
Ziqian LIU ◽  
Yanyong WANG ◽  
...  

Abstract BackgroundTo analyze the relationship between apolipoprotein E(APOE) (including the SNPs rs429358 and rs7412) gene and cerebral infarction(CI) in Northern Chinese Han population.Methods457 CI patients and 416 controls (without CI) in Chinese Han population were recruited for our study to test the SNPs by polymerase chain reaction (PCR)-fluorescence probe technique.ResultsThe distribution of APOE genotypes were in Hardy-Weinberg equilibrium, and the frequencies of ɛ4 allele orɛ4 containing were significantdifference between CI and control groups. Compared to ε2 or ε3 carriers, ε4 carriers had a high level of total cholesterol (TC) and low-density lipoprotein cholesterol(LDL-C) and high presenceof dyslipidemia in recruited peoples. And we found APOE ε4 allele was associated with an increased risk of dyslipidemia in the control and CI groups (OR = 2.232, 95% CI= 1.143-4.361, P<0.000; OR = 3.442, 95% CI= 1.885-6.284, P=0.019). However, further logistic regression showed that ɛ4 allele or carriers were not the independent risk factors of CI (OR = 2.232, 95% CI= 1.143-4.361, P=0.144; OR = 3.442, 95% CI= 1.885-6.284, P=0.162).ConclusionAPOE ε4 allele was associated with an increased risk of dyslipidemia (OR = 2.232, 95% CI= 1.143-4.361; OR = 3.442, 95% CI= 1.885-6.284), but ɛ4 allele or carriers were not the independent risk factors of CI in Northern Chinese Han population (OR = 2.232, 95% CI= 1.143-4.361, P=0.144; OR = 3.442, 95% CI= 1.885-6.284, P=0.162).


2020 ◽  
Vol 70 (7) ◽  
pp. 1130-1139
Author(s):  
Guolong Tu ◽  
Wenliang Zhan ◽  
Yao Sun ◽  
Jiamin Wu ◽  
Zichao Xiong ◽  
...  

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yanhai Yin ◽  
Fen Li ◽  
Liangqian Tong ◽  
Chunru Chen ◽  
Bo Yuan

Abstract Background The study aimed to evaluate the relationship of IL-1B/IL-1RN polymorphisms to the predisposition of head and neck cancer (HNC) in a Chinese Han population. Methods Nine single-nucleotide polymorphisms (SNPs) in IL-1B/IL-1RN were genotyped based on Agena MassARRAY platform. Logistic regression models were used to analyze the genetic association between these SNPs and HNC risk by calculating odds ratios (ORs) and 95% confidence intervals (CI). Haplotype analysis were performed using Haploview program and logistic regression model. Results The genetic association between rs1143643 in IL-1B and the higher risk of HNC was found (OR = 1.23, 95% CI 1.04–1.46) in the overall. IL-1RN rs17042888 was related to a reduced risk of HNC in the subjects aged > 46 years (OR = 0.70, 95% CI: 0.50–0.98) and in females (OR = 0.71, 95% CI 0.52–0.98), while rs1143643 increased the predisposition of HNC among females (OR = 1.76, 95% CI 1.13–2.74). Furthermore, rs1143643 had an increased susceptibility to thyroid carcinoma (OR = 1.61, 95% CI 1.10–2.34). Moreover, compared with stage I–II, the frequency of IL-1RN rs452204-AG genotype was lower in patients with stage III–IV. Conclusions IL-1B (rs1143643) and IL-1RN (rs17042888 and rs452204) polymorphisms might be related to the individual susceptibility of HNC in the Chinese Han population. These results might help to improve the understanding of IL-1B and IL-1RN genes in the occurrence of HNC.


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