转化生长因子β_1单核苷酸多态性及血清水平与高血压左室肥厚的关系

The serum level and the single nucleotide polymorphism of TGF-β_1 in patients with essential hypertension and left ventricular hypertrophy

目的 研究转化生长因子β1（TGF-β1）基因＋869、＋915位点等位基因频率及基因型在高血压左室肥厚患者中的分布,初步分析其基因型及血清水平与高血压左室肥厚的关系。方法采用序列特异性引物聚合酶链反应（PCR-SSP）,检测186例高血压患者（其中91例伴左室肥厚）及105名对照组TGF-β1基因＋869T/C、＋915G/C多态性,同时采用双抗体夹心ABC-酶联免疫吸附测定（ELISA）法测定血清TGF-β1水平。结果高血压左室肥厚组血清TGF-β1水平显著高于高血压非左室肥厚组和对照组（P均〈0.05）,TGF-β1＋869T/C多态性在两组人群中的分布差异有统计学意义（P均〈0.05）,C等位基因携带者患高血压左室肥厚的风险是T等位基因的1.787倍（OR=1.787,95%CI：1.194-2.673）,携带C等位基因的高血压左室肥厚患者血清TGF-β1水平高于不携带者（P〈0.05）。结论 TGF-β1基因＋869T/C多态性与高血压左室肥厚的发病具有相关性,C等位基因可能是高血压左室肥厚发病的遗传易感基因;携带C等位基因的个体可能通过促进TGF-β1的高度表达,进而增加了高血压左室肥厚的发病风险。

Objective To study the relationship of the allele frequencies and genotype distribution of transforming growth factor-β1 （TGF-β1） gene ＋ 869 and ＋ 915 polymorphism in patients with essential hypertension and left ventficular hypertrophy, and to analyze association of the serum levels and genotype of TGF-β1 with essential hypertension and left ventricular hypertrophy. Methods The polymorphisms of TGF-β1 gene, including polymorphisms of TGF-β1 gene ＋ 869T/C and ＋ 915G/C, were analyzed by sequence specific primers-polymerase chain reaction （PCR-SSP） methods in 186 patients with essential hypertension and 105 healthy controls, and the serum level of TGF-β1 was determined by enzyme-linked immunosorbent assay （ELISA）. Results The essential hypertension with left ventricular hypertrophy group showed significantly higher serum levels of TGF-β1 than control group （P〈0.05） The TGF-β1 gene ＋ 869T/C polymorphism was significantly different. The relative risk suffered from essential hypertension with left ventricular hypertrophy of C allele was 1. 787 times of the T allele （OR= 1. 787, 95% CI： 1. 194-2. 673）, the serum level of TGF-β1 C allele carriers was significantly higher than nocarriers （P〈0.05）. Conclusion TGF-β1 gene ＋ 869T/C polymorphism was associated with essential hypertension with left ventricular hypertrophy, and C allele may be a risk factor for essential hypertension with left ventricular hypertrophy in which the TGF-β1 C allele may be a incrcased risk factor by enhancing the TGF-β1 expression in the pathogenesis of essential hypertension with left ventricular hypertrophy.