白细胞介素-1基因多态性与高血压易感性的研究

Study on the polymorphism of interleukin-1 gene and the susceptibility to essential hypertension

目的 观察白细胞介素 - 1(interleukin- 1,IL- 1)基因多态性在中国汉族人群中的分布及其与原发性高血压 (essential hypertension,EH)的关系 ,初步分析其基因型与 EH易感性的相关性。方法 应用聚合酶链反应和限制性片段长度多态性的方法 ,检测湖北省汉族 15 2例 EH患者和 16 8名正常对照者的IL- 1基因多态性 ,包括 IL- 1α(- 889C/ T)位点、IL- 1β(- 5 11C/ T)位点、IL- 1β(+395 3C/ T)位点、IL- 1Ra(+80 0 6 T/ C)位点多态性以及 IL- 1Ra第 2内含子可变数串联重复序列多态性。结果 IL- 1α(- 889C/ T)位点、IL- 1β(+395 3C/ T)位点、IL- 1Ra(+80 0 6 T/ C)位点多态性和 IL- 1Ra可变重复序列多态性在 EH组和正常人群中的分布差异无显著性 (P>0 .0 5 ) ,而 IL- 1β(- 5 11C/ T)位点多态性在两组人群中的分布差异存在显著性 (P<0 .0 5 ) ,携带 CT基因型罹患 EH的危险性可增加 2 .5 4倍。结论 IL- 1β基因启动子区 - 5 11位点 C/ T多态性可能与 EH易感性存在相关关系。

Objective To make investigations on the polymorphism of interleukin-1( IL-1)gene in Chinese Han population, on its association with essential hypertension, and on the relationship between the genotype of IL-1 and susceptibility to essential hypertension. Methods The polymorphisms of IL-1 gene in Han population of Hubei province, including polymorphisms of IL-1α(-889C/T),IL-1β(-511C/T),IL-1β(+3953C/T),IL-1Ra(+8006T/C)and IL-1Ra(variable number of tandem repeat, VNTR), were analyzed by polymerase chain reaction(PCR)and a combination of PCR-restriction fragment length polymorphism methods in 152 patients with essential hypertension and 168 healthy controls. Results The polymorphism distributions of IL-1α(-889C/T),IL-1β(+3953C/T),IL-1Ra(+8006T/C)and IL-1Ra(VNTR) showed no differences between the essential hypertension group and control group, but the IL-1β(-511C/T) exhibited a significant difference between the two groups. CT genotype carriers were at increased risk for essential hypertension(OR=2.54, 95%CI:1.41-4.58), compared with healthy controls. Conclusion The polymorphism of promotor region -511C/T in IL-1β gene is probably associated with the susceptibility to essential hypertension.