高胆固醇血症患者LDL-R基因XspI位点多态性与血清IL-6的关系及意义

Relationship between Xsp I site polymorphism of LDL-R gene and serum IL-6 in patients with hypercholesterolemia

目的探讨高胆固醇血症患者低密度脂蛋白受体基因(LDL-R)第2外显子Xsp I位点多态性与血清IL-6的关系及意义。方法用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术结合DNA测序检测730例高胆固醇血症患者和200例体检健康者LDL-R基因的Xsp I酶切位点多态性;按基因型分组,用ELISA法检测各基因型IL-6的浓度,对两者关系进行分析。用多元逐步回归分析影响IL-6水平的因素。结果与健康对照组相比,高胆固醇血症组血清IL-6明显升高,HDL-C降低(P均<0.05);基因型分别为X-X-、X+X-、X+X+基因型的高胆固醇血症患者,TC、LDL-C、IL-6水平依次升高,HDL-C水平依次降低,差异有统计学意义(P均<0.05);多元线性回归分析显示基因型和胆固醇水平是影响IL-6水平的独立因素。结论高胆固醇血症患者血清IL-6水平升高,LDL-R基因X+X+基因型可能通过影响IL-6水平促进高胆固醇血症。

Objective To explore the relationship between Xsp I site polymorphism of exon 2 in low-density lipoprotein receptor（LDL-R） gene and serum IL-6 levels in patients with hypercholesterolemia and its significance.Methods Xsp I site polymorphism of LDL-R gene were detected by PCR-RFLP and sequencing in 730 patients with hypercholesterolemia and 200 healthy subjects.All the tested subjects were divided into three groups： X＋X＋,X＋X-and X-X-according to the genotypes of Xsp I site.The levels of serum IL-6 were determined by ELISA.The levels of serum lipids of the 2 groups were measured simultaneously.The relationship between IL-6 level and Xsp I site was analyzed by multiple linear regression analysis.Results The serum level of IL-6 was higher than that of healthy controls,while the level of HDL-C was lower than that of controls（P0.05）.The level of TC,LDL-C,IL-6 increased and HDL-C decreased successively in the hypercholesterolemia patients of genotype X-X-,X＋X-and X＋X＋ with statistically significant difference（P0.05）.Stepwise multiple linear regression analysis showed that the genotype of Xsp I site and total cholesterol were the independent factors of affecting serum IL-6 level.Conclusion The high level of IL-6 was found in the genotype X＋X＋ and may be the pathogenic factor of hypercholesterolemia.