The Haplotype of the TGFβ1 Gene Associated with Cerebral Infarction in Chinese

Abstract

Background:Transforming growth factor beta1 (TGFβ1) is a multifunctional cytokine involved in inflammation and pathogenesis of atherosclerosis. The aim of the present study was to investigate the relationship between human TGFβ1 gene +869T>C (rs1800470), -509C>T (rs1800469) single nucleotide polymorphisms (SNPs) and haplotypes and cerebral infarction (CI) in a Chinese population.Methods:The genetic association study was performed in 450 Chinese patients (306 male and 144 female) with CI and 450 control subjects (326 male and 124 female). TGFβ1 gene +869T>C and -509C>T polymorphisms were identified with amplification refractory mutation system polymerase chain reaction and DNA sequencing method.Results:The individual SNPs analysis showed the +869T and -509C in an additive model (+869T vs +869C; -509 C vs T), +869TT genotype in a recessive model (TT vs TC+CC) and 509CC genotype in a dominant model (CC+ CT vs TT) were identified to be related to CI (P<0.05). +869T>C and -509C>T SNPs were in strong linkage disequilibrium (d'=0.87, R2=0.75). Haplotype analysis showed that +869C/-509T haplotype was associated with a significant decreased risk of CI (OR= 0.86, 95%CI, 0.70-0.92; P=0.007). Furthermore,+869T/-509C haplotype was associated with a significant increased risk of CI (OR=1.31, 95%CI, 1.10-2.03; P=0.019).Conclusions:The results of this study indicate that polymorphisms and the haplotypes in the TGFβ1 gene might be genetic markers for CI in the Chinese population.

Association of a Multigenetic Pro-Inflammatory Profile with Ischaemic Stroke

“…Different to our results, intercellular adhesion molecule 1 rs5498 was found to be associated with ischaemic stroke risk in Caucasians but not in Asians in a meta-analysis [5]. In contrast to some previous studies and in line with the results presented here, a recent meta-analysis did not detect a significantly in-creased risk of stroke in carriers of ILA rs1894399 and CD14 rs2569190 [19]. The rare allele of TNF rs1800629 was protective against stroke in Asian, but not in Caucasian populations according to a recent meta-analysis [16], in line with the neutral result in our population.…”

“…Non-inflammatory genes and genes without reported association with above vascular diseases were not considered. The following variants were selected: IL1A rs1894399 [11], IL1B rs16944 [12], IL1RN rs380092 [12], IL6 pro-inflammatory haplotype [13], IL6 receptor (IL6R) rs2228145 [14], IL10 rs1800872 [15], tumour necrosis factor-a (TNF) rs1800629 [16], C-C motif che-DOI: 10.1159/000507042 mokine ligand 2 rs1024611 [17], CCR5 rs333 [17], CRP pro-inflammatory haplotype [18], intercellular adhesion molecule 1 rs5498 [5], TGFB1 rs1800469 [19], E-Selectin rs5361 [20], SEPS rs9874 [21], cluster determinant (CD) 14 rs2569190 [22,23] and HDAC9 rs11984041 [24]. Haplotype analysis was performed for CRP (3 SNPs) and IL6 (6 SNPs).…”

Transforming growth factor-β1 (C509T, G800A, and T869C) gene polymorphisms and risk of ischemic stroke in North Indian population: A hospital-based case-control study

“…Till date, a few studies have been published on the association between TGF-β1 polymorphisms[23242526272829] and risk of IS with one SNP and only two studies have examined the TGF-β1 haplotype. [2327] The study by Peng et al .…”

“…[2327] The study by Peng et al . [23] suggested that C-509T and T869C gene polymorphisms in TGF-β1 might be a critical risk factor for genetic susceptibility to confidence interval (CI) and the study by Tao et al .…”

“…[23] suggested that C-509T and T869C gene polymorphisms in TGF-β1 might be a critical risk factor for genetic susceptibility to confidence interval (CI) and the study by Tao et al . [27] suggested that haplotypes in the TGF-β1 gene might be genetic markers for cerebral infarction in the Chinese population. Although a previously published meta-analysis of six studies by Peng et al .…”