Association of single-nucleotide polymorphism on chromosome 9 and ischemic stroke in Heilongjiang province in China.
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ABSTRACT:
SUBMITTER: Jin M
PROVIDER: S-EPMC8255203 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:The present study was performed to clarify the association between the acyl-CoA:cholesterol acyltransferase-1 (ACAT-1) single nucleotide polymorphism (SNP) rs1044925 and the risk of coronary artery disease (CAD) and ischemic stroke (IS) in the Guangxi Han population. Polymerase chain reaction and restriction fragment length polymorphism was performed to determine the genotypes of the ACAT-1 SNP rs1044925 in 1730 unrelated subjects (CAD, 587; IS, 555; and healthy controls; 588). The genotypic and allelic frequencies of rs1044925 were significantly different between the CAD patients and controls (p = 0.015) and borderline different between the IS patients and controls (p = 0.05). The AC/CC genotypes and C allele were associated with a decreased risk of CAD and IS (CAD: p = 0.014 for AC/CC vs. AA, p = 0.022 for C vs. A; IS: p = 0.014 for AC/CC vs. AA; p = 0.017 for C vs. A). The AC/CC genotypes in the healthy controls, but not in CAD or IS patients, were associated with an increased serum high-density lipoprotein cholesterol (HDL-C) concentration. The present study shows that the C allele carriers of ACAT-1 rs1044925 were associated with an increased serum HDL-C level in the healthy controls and decreased risk in CAD and IS patients.
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Project description:ANRIL has long been considered as the strongest candidate gene at the 9p21 locus, robustly associated with stroke and coronary artery disease. However, the underlying molecular mechanism remains unknown. The present study works to elucidate such a mechanism.Using expression quantitative loci analysis, we identified potential genes whose expression may be influenced by genetic variation in ANRIL. To verify the identified gene(s), knockdown and overexpression of ANRIL were evaluated in human umbilical vein endothelial cells and HepG2 cells. Ischemic stroke and coronary artery disease risk were then evaluated in the gene(s) demonstrated to be mediated by ANRIL in 3 populations of Chinese Han ancestry: 2 ischemic stroke populations consisting of the Central China cohort (903 cases and 873 controls) and the Northern China cohort (816 cases and 879 controls) and 1 coronary artery disease cohort consisting of 772 patients and 873 controls.Expression quantitative loci analysis identified CARD8 among others, with knockdown of ANRIL expression decreasing CARD8 expression and overexpression of ANRIL increasing CARD8 expression. The minor T allele of a previously identified CARD8 variant (rs2043211) was found to be significantly associated with a protective effect of ischemic stroke under the recessive model in 2 independent stroke cohorts. No significant association was found between rs2043211 and coronary artery disease.CARD8 is a downstream target gene regulated by ANRIL. Single nucleotide polymorphism rs2043211 in CARD8 is significantly associated with ischemic stroke. ANRIL may increase the risk of ischemic stroke through regulation of the CARD8 pathway.
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Project description:The Coronavirus Disease 2019 (COVID-19) surges worldwide. However, massive imported patients especially into Heilongjiang Province in China recently have been an alert for local COVID-19 outbreak. We collected data from January 23 to March 25 from Heilongjiang province and trained an ordinary differential equation model to fit the epidemic data. We extended the simulation using this trained model to characterize the effect of an imported 'escaper'. We showed that an imported 'escaper' was responsible for the newly confirmed COVID-19 infections from Apr 9 to Apr 19 in Heilongjiang province. Stochastic simulations further showed that significantly increased local contacts among imported 'escaper', its epidemiologically associated cases and susceptible populations greatly contributed to the local outbreak of COVID-19. Meanwhile, we further found that the reported number of asymptomatic patients was markedly lower than model predictions implying a large asymptomatic pool which was not identified. We further forecasted the effect of implementing strong interventions immediately to impede COVID-19 outbreak for Heilongjiang province. Implementation of stronger interventions to lower mutual contacts could accelerate the complete recovery from coronavirus infections in Heilongjiang province. Collectively, our model has characterized the epidemic of COVID-19 in Heilongjiang province and implied that strongly controlled measured should be taken for infected and asymptomatic patients to minimize total infections.
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Project description:Nitric oxide (NO) is an important messenger molecule and effector molecule. This study aimed to investigate the relation of neuronal nitric oxide synthase (nNOS) gene polymorphism with ischemic stroke in Han Chinese of North China. This was a case-control study. A total of 413 patients with ischemic stroke were recruited from Han Chinese of North China. There were 201 males and 212 females. In addition, 477 healthy subjects served as controls including 224 males and 253 females. Multiplex SNaPshot was employed to detect nNOS gene polymorphism (rs2293050, rs2139733, rs7308402, and rs1483757). Results showed that the rs1483757, rs2139733, and rs2293050 genotypes and allele frequencies were comparable between patients and controls. However, ischemic stroke patients had significantly reduced AG genotype and A allele frequency when compared with controls (P = 0.037, P = 0.041). After adjusting confounding factors (gender, age, smoking, history of drinking, hypertension, and diabetes), AG genotype and A allele were still related to ischemic stroke (OR = 0.572, 95% CI: 0.335-0.978, P = 0.041; OR = 0.611, 95% C: 0.378-0.985, and P = 0.041) and both were found to be protective factors. Our results showed that rs7308402 gene polymorphism of nNOS is related to ischemic stroke in Han Chinese of North China.
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Project description:AimA recent genome-wide association study identified a strong association of covert magnetic resonance imaging infarcts with the single nucleotide polymorphism (SNP) rs2208454. The aim of this study was to determine whether the rs2208454 polymorphism is associated with an increased risk for ischemic stroke (IS).MethodsIschemic stroke patients (n = 712) and control subjects (n = 774) from a southern Chinese Han population were included. The snapshot technique was used for genotype analysis.ResultsCompared with the GT+GG or GG genotype, the frequency of the TT genotype was significantly higher in IS than in controls. After adjusting for age, gender, family history of IS, hypertension history, and history of diabetes mellitus, a significant correlation between the TT genotype and IS persisted (TT vs. GT+GG: adjusted OR = 1.79, 95% CI: 1.16-2.77; TT vs. GG: adjusted OR = 1.88, 95% CI: 1.20-2.94). In subgroup analyses, SNP rs2208454 was significantly associated with large artery atherosclerosis (LAA) (TT vs. GG: adjusted OR = 2.16, 95% CI: 1.19-3.93), but failed to show significant association with small-artery occlusion or cardioembolism IS subtypes.ConclusionsSingle nucleotide polymorphism rs2208454 confers an increased risk for IS in a southern Chinese Han population. When the IS subtype was examined, the effect of the SNP was restricted to LAA.
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Project description:BACKGROUND The association between 3 well known SNPs - miR-146a C/G (rs2910164), miR-196a2 T/C (rs11614913), and miR-499 A/G (rs3746444) - in pre-miRNA sequences and ischemic stroke (IS) are still conflicting and inconclusive. This meta-analysis aimed to pool previous studies get a more precise assessment of the association between these 3 SNPs and the risk of IS. MATERIAL AND METHODS Relevant studies were searched in online databases. The strength of the association between the SNPs and IS were estimated by pooling odds ratios (OR) and 95% confidence intervals (CI) using Review Manager (version 5.3). RESULTS Rs2910164 C allele was associated with lower IS risk. But this trend was only observed in Koreans under the allele model (OR=0.81, 95% CI=0.68-0.95, p=0.009), dominant model (OR=0.68, 95% CI=0.50-0.93, p=0.02), recessive model (OR=0.79, 95% CI=0.63-1.00, p=0.05), and homozygous model (OR=0.63, 95%CI=0.45-0.88, p=0.007). Rs11614913 T allele might be associated with higher IS risk under the dominant model (OR=1.45, 95% CI=1.19-1.78, p=0.0003), while rs3746444 A allele might be associated with decreased IS risk under the homozygous model (OR=0.48, 95% CI=0.23-0.98, p=0.04) only in Chinese, but not in Koreans. CONCLUSIONS Although the 3 SNPs might be associated with IS, the association varied significantly in different countries.
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Project description:Hantavirus is the causative agent of hemorrhagic fever with renal syndrome (HFRS). Heilongjiang Province is experiencing an epidemic of HFRS, the main causative agent is a variant of hantavirus called Seoul virus (SEOV). In this study, the entire genome of one SEOV, the DN2 strain, was sequenced and analyzed. The alignment analysis of the sequences indicated that the DN2 strain shares the highest homology with the SEOV-LYO852 strain. The nucleotide identity is 97.6% for the S segment, 97.7% for the M segment, and 98.0% for the L segment. The corresponding amino acid sequence homologies are 99.1%, 98.9% and 99.8%. The phylogenetic analysis of the segments suggests that the DN2 strain has a high genetic relationship with SEOV strains and no genetic recombination occurs.
| S-EPMC6318823 | biostudies-literature
Project description:BackgroundSeveral studies have investigated the correlation between phosphodiesterase 4D (PDE4D) single nucleotide polymorphism (SNP) rs918592 and the risk of ischemic stroke (IS) in Chinese populations. But the results were inconsistent and inconclusive. Therefore, to resolve this conflict, we conducted a meta-analysis to further elucidate their relationship in Chinese populations.MethodsStudies focused on SNP rs918592 and IS risk were electronic searched in the databases of PubMed, Embase, ISI Web of Science, Weipu, China National Knowledge Infrastructure (CNKI), Chinese Biomedical (CBM) and Wanfang. The association between SNP rs918592 and IS risk was expressed by odds ratio (OR) with its confidence interval (CI). Begg's and Egger's linear regression tests were used to assess publication bias. The meta-analysis was performed with STATA 11.0 statistical software. Two online prediction websites (HaploReg and RegulomeDB) were adopted to explore the functions of SNP rs918592.ResultsThe meta-analysis ultimately included 10 studies involving 2,348 cases and 2,289 controls. The results showed that there was a significant correlation between SNP rs918592 and IS risk in Chinese individuals. The G allele had reduced risk of developing IS compared to the A allele (OR 0.83, 95% CI 0.74-0.95, P = 0.005). HaploReg and RegulomeDB analyses suggested that SNP rs918592 and its strongly linked SNPs (e.g. rs34168777) might have regulatory functions.ConclusionThis study shows that SNP rs918592 in PDE4D may be a contributor of IS risk in Chinese populations. It offers a good answer for the association of PDE4D SNP rs918592 with IS risk in Chinese populations for the first time.
| S-EPMC10765709 | biostudies-literature
Project description:Recent studies showed association between diseases and TLR6 polymorphisms. To investigate whether TLR6 polymorphisms are associated with the development of ischemic stroke, four single nucleotide polymorphisms (SNPs) of the TLR6 gene (rs1039559, rs3821985, rs3775073, and rs5743818) were analyzed in 120 patients with ischemic stroke (IS) and 278 control subjects. All ischemic stroke patients were classified into clinical subgroups according to NHISS and MBI. SNPStats was used to obtain odds ratios (ORs), 95% confidence intervals (CIs), and P values. Multiple logistic regression models (codominant1, codominant2, dominant, recessive, and log-additive) were performed to analyze the genetic data. Two SNPs (rs3821985 and rs3775073) of the TLR6 gene were associated with the NHISS in ischemic stroke patients (P< 0.05). Also, three SNPs (rs1039559, rs3821985, and rs3775073) showed association with MBI in ischemic stroke patients (P< 0.05). These results suggest that SNPs of TLR6 (rs1039559, rs3821985, and rs3775073) may be affect the disease characteristics of stroke, such as NIHSS and MBI.
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