Institute of Neurosciences, The Second Affiliated Hospital of Guangzhou Medical College, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou 510260, P.R. China.
Lipids Health Dis. 2011 Jun 16;10:100. doi: 10.1186/1476-511X-10-100.
Transforming growth factor-β1 (TGF-β1) is a multifunctional cytokine involved in inflammation and pathogenesis of atherosclerosis. There is scant information on the relation between variations within the TGF-β1 gene polymorphisms and risks of ischemic cerebrovascular diseases. Therefore, this case-controlled study was carried out to investigate the possible association of the TGF-β1 gene C-509T and T869C polymorphisms, and their combined genotypes with the risk of atherosclerotic cerebral infarction (CI) in the Chinese population.
We recruited 164 CI patients and 167 healthy control subjects who were frequency-matched for age and gender. The frequencies of the -509TT genotype and T allele gene were significantly higher in the CI group (P = 0.007, P = 0.006). The frequencies of +869CC genotype and C allele were higher in the CI group (P = 0.002, P = 0.004). In the CI group, the individuals with -509TT genotype had a significantly higher level of plasma triglyceride (TG) (P = 0.017). +869CC genotype correlated significantly with higher level of plasma low density lipoprotein cholesterol (LDL-c) in the CI group (P = 0.015). With haplotype analysis, the frequency of the -509T/+869C combined genotype was significantly higher in the CI group than in controls (P < 0.001).
Our study suggests that C-509T and T869C gene polymorphisms in TGF-β1 may be a critical risk factor of genetic susceptibility to CI in the Chinese population.
转化生长因子-β1（TGF-β1）是一种多功能细胞因子，参与炎症和动脉粥样硬化的发病机制。关于 TGF-β1 基因多态性与缺血性脑血管病风险之间的关系，信息甚少。因此，本病例对照研究旨在探讨 TGF-β1 基因 C-509T 和 T869C 多态性及其联合基因型与中国人群动脉粥样硬化性脑梗死（CI）风险的可能相关性。
我们招募了 164 例 CI 患者和 167 例年龄和性别相匹配的健康对照者。CI 组-509TT 基因型和 T 等位基因的频率明显较高（P=0.007，P=0.006）。CI 组+869CC 基因型和 C 等位基因的频率较高（P=0.002，P=0.004）。在 CI 组中，-509TT 基因型个体的血浆甘油三酯（TG）水平明显较高（P=0.017）。+869CC 基因型与 CI 组中血浆低密度脂蛋白胆固醇（LDL-c）水平显著相关（P=0.015）。通过单体型分析，CI 组中-509T/+869C 联合基因型的频率明显高于对照组（P<0.001）。
本研究表明，TGF-β1 基因 C-509T 和 T869C 多态性可能是中国人群 CI 遗传易感性的重要危险因素。
