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:Ischemic 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.In 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.We 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).The 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.

Project description:Obstructive sleep apnea-hypopnea syndrome (OSAHS) is a common chronic disorder which is followed by various complications. Calpain-10 belongs to a commonly expressed member of the Calpain-like cysteine protease family, which acts as risk marker for some diseases. The purpose of this study is to elucidate correlation between Calpain-10 single-nucleotide polymorphisms (SNPs) and the incidence of OSAHS followed by ischemic stroke (IS).OSAHS patients were divided as OSAHS?+?IS, OSAHS, and control groups, respectively. Immunohistochemistry was performed for Calpain-10 protein expression, polymerase chain reaction (PCR)-restriction fragment length polymorphism for detection of gene polymorphisms of SNP 43 and SNP 19, and PCR-allele specific amplification for SNP 44. Polysomnography was conducted to check the nocturnal polysomnography indicators, and also Montreal Cognitive Assessment (MoCA), Scientific Data System scores cognition and anxiety of patients, respectively. Logistic analysis was used for the risky factors for OSAHS.Calpain-10 protein expression was significantly increased in the OSAHS?+?IS and OSAHS groups compared with the control group. Significant differences in SNP 43 and SNP 44 genotype, and also allele frequency were observed in 3 groups, among which the OSAHS?+?IS group had higher SNP 43 and SNP 44 allele frequency than the control and OSAHS groups. There were differences regarding apnea-hypopnea index, minimum fingertip blood oxygen saturation (LSaO2 [%]), oxygen reduction index (ODI) between patients with different genotypes of SNP 43 and SNP 44 in OSAHS patients, and also GC and AT frequency in the OSAHS?+?IS and OSAHS groups. As compared with the OSAHS group, the MoCA scores and MoCA subitems in the OSAHS?+?IS group were declined, whereas the Scientific Data System scores were elevated. Additionally, GG 43 genotype, high apnea-hypopnea index, and body mass index were detected as the risk factors of OSAHS.These findings indicate that the Calpain-10 SNP 43 may be related to OSAHS with IS, with SNP 43 GG genotype as a risk factor for OSAHS with IS.

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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