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

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。

The serum level and the single nucleotide polymorphism of TGF-β1 in patients with essential hypertension and left ventricular hypertrophy

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 ventricular 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 increased risk factor by enhancing the TGF-β1 expression in the pathogenesis of essential hypertension with left ventricular hypertrophy.