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目的探讨高胆固醇血症患者低密度脂蛋白受体(LDL-R)基因第8外显子ClaI位点多态性与血清瘦素(leptin,LP)、脂联素(adiponectin,APN)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2 555例高胆固醇血症患者和2 200例体检健康者LDL-R基因的ClaI酶切位点多态性;按基因型分组,用ELISA法检测各基因型瘦素、脂联素的浓度,对两者关系进行分析,同时检测2组血脂指标。结果与健康对照组比较,高胆固醇血症组血清瘦素明显升高,脂联素、HDL-C降低(P<0.05);根据LDL-R第8外显子处是否有ClaI酶切位点,分为C+C+、C+C-、C-C-3种基因型,在C+C+组、C+C-组、C-C-组中,血清瘦素水平依次升高,脂联素水平依次降低(P<0.05);多元线性回归分析显示,基因型和胆固醇水平是影响血清瘦素、脂联素水平的独立因素。结论高胆固醇血症患者血清瘦素水平升高,脂联素水平降低,LDL-R基因C-C-基因型可能通过影响血清瘦素、脂联素水平促进高胆固醇血症的发生。
Objective To investigate the relationship between the ClaI polymorphism of exon 8 of LDL-R gene and serum leptin (LP) and adiponectin (APN) in patients with hypercholesterolemia. And meaning. Methods The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique combined with DNA sequencing was used to detect the number of ClaI restriction sites of LDL-R gene in 2 555 hypercholesterolemic patients and 2 200 healthy controls The genotypes were grouped and the leptin and adiponectin concentrations were determined by ELISA. The relationship between them was analyzed, and two groups of blood lipids were also detected. Results Compared with healthy control group, serum leptin in hypercholesterolemia group was significantly increased, and adiponectin and HDL-C levels were decreased (P <0.05). According to LDL-R exon 8, there was ClaI restriction site , Divided into C + C +, C + C-, CC-3 genotypes. In the C + C + group, C + C- group and CC- group, the levels of serum leptin increased in turn and the levels of adiponectin decreased (P <0.05). Multiple linear regression analysis showed that genotype and cholesterol levels were independent factors affecting serum leptin and adiponectin levels. Conclusions Patients with hypercholesterolemia have elevated serum leptin level and adiponectin level. The C-C genotype of LDL-R gene may promote hypercholesterolemia by affecting serum leptin and adiponectin level.