Dataset Information

Association of TLR6 single nucleotide polymorphisms and clinical features of ischemic stroke in Korean population.

ABSTRACT: 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.

SUBMITTER: Yang SA

PROVIDER: S-EPMC3884873 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Association of TLR6 single nucleotide polymorphisms and clinical features of ischemic stroke in Korean population.

Yang Seung-Ae SA

Journal of exercise rehabilitation 20131231 6

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 ratio ...[more]

PMID: 24409430

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Project description:BackgroundIschemic stroke (IS) is the main cause of death and adult disability. However, the pathogenesis of this complicated disease is unknown. The present study aimed to assess the relationship between ITLN1 single nucleotide polymorphisms (SNPs) and the susceptibility to IS in Xi'an population, Shaanxi province.MethodsIn this study, we designed polymerase chain reaction (PCR) primers located at -3,308 bp upstream of the transcription initiation site within promoter region of the ITLN1 gene. The target fragment was amplified by PCR and identified by agarose gel electrophoresis. Sanger sequencing was then performed in the samples extracted from a cohort comprising 1,272 participants (636 controls and 636 cases), and the obtained sequences were compared with the reference sequences available on the National Center for Biotechnology Information (NCBI) website to detect SNPs in the ITLN1 gene promoter region. Logistic regression analysis was employed to assess the relationship between ITLN1 polymorphisms and IS risk, with adjustments for age and gender. Significant positive results were tested by false-positive report probability (FPRP) and false discovery rate (FDR). The interaction among noteworthy SNPs and their predictive relationship with IS risk were explored using the Multi-Factor Dimensionality Reduction (MDR) software.ResultsThe results of Sanger sequencing were compared with the reference sequences on the NCBI website, and we found 14 SNPs in ITLN1 gene promoter satisfied Hardy-Weinberg equilibrium (HWE). Logistic regression analysis showed that ITLN1 was associated with a decreased risk of IS (rs6427553: Homozygous C/C: adjusted OR: 0.69, 95% CI [0.48-0.97]; Log-additive: adjusted OR: 0.83, 95% CI [0.70-0.98]; rs7411035: Homozygous G/G: adjusted OR: 0.66, 95% CI [0.47-0.94]; Dominant G/T-G/G: adjusted OR: 0.78, 95% CI [0.62-0.98]; Log-additive: adjusted OR: 0.81, 95% CI [0.69-0.96]; rs4656958: Heterozygous G/A: adjusted OR: 0.74, 95% CI [0.59-0.94]; Homozygous A/A: adjusted OR: 0.51, 95% CI [0.31-0.84]; Dominant G/A-A/A: adjusted OR: 0.71, 95% CI [0.57-0.89]; Recessive A/A: adjusted OR: 0.59, 95% CI [0.36-0.96]; Log-additive: adjusted OR: 0.73, 95% CI [0.61-0.88]), especially in people aged less than 60 years and males.ConclusionsIn short, our study revealed a correlation between ITLN1 variants (rs6427553, rs7411035 and rs4656958) and IS risk in Xi'an population, Shaanxi province, laying a foundation for ITLN1 gene as a potential biomarker for predicting susceptibility to IS.

Project description:Background and purposeIschemic stroke (IS) is the main cause of mortality and disability among the old people in China and is a multifactorial disease influenced by many factors including genetic factors like the allele for CYP 2J2. It has been demonstrated that CYP2J2 polymorphisms alter the transcriptional activity. However, studies on the association between CYP2J2-50G/T polymorphism and IS have reported conflicting results. Thus, our study aimed to examine the association between 4 variants in the CYP2J2 gene and the risk of IS and its subtypes, in the Chinese population.Materials and methodsIn this study, genotyping was performed by using polymerase chain reaction (PCR) sequencing for 202 IS patients and 206 age- and sex-matched controls. Odds ratios (ORs) and confidence interval (CI) were estimated by multivariate logistic regression and PCR results were confirmed by DNA sequencing. A meta-analysis was conducted to evaluate the association of CYP2J2-50G>T polymorphism with the risk of IS in Chinese population by calculating pooled OR.ResultsWe found this polymorphism was significantly associated with IS (17.82% vs. 10.68%, P = 0.039). Multiple logistic regression analysis revealed that GT genotype was associated with a significantly high risk of IS (OR = 2.32, 95% CI: 1.21-4.45, P = 0. 011) after adjustment for other confounding factors such as hypertension, diabetes, heart disease, smoking habit, family history, triglyceride and low-density lipoprotein levels. We also found a significant association of GT genotype with small artery occlusion (SAA) (P < 0.05; OR = 2.22; 95% CI: 1.043-4.72). Meta-analysis results also showed that the GT genotype carriers had a negative effect on the risk of IS in Chinese population with overall OR of 1.40 (95% CI: 1.06-1.84).ConclusionThe findings of the present study suggested that polymorphism in -50G/T position of CYP2J2 gene might be a risk factor for IS in Chinese population. Further large prospective studies were required to confirm these findings.

Dataset Information

Association of TLR6 single nucleotide polymorphisms and clinical features of ischemic stroke in Korean population.

Publications

Association of TLR6 single nucleotide polymorphisms and clinical features of ischemic stroke in Korean population.

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