肥胖儿童脂代谢及血压与ACE基因多态性的临床研究

Correlation between polymorphism of ACE gene and lipid metabolism and blood pressure in children with obesity

目的探讨血管紧张素转换酶(ACE)基因第16内含子的插入/缺失(I/D)多态性和D等位基因频率在健康及单纯型肥胖儿童中的分布及ACE基因多态性对肥胖儿童的血压、脂质代谢及体脂分布的影响。方法常规酚—氯仿法抽提基因组DNA,用聚合酶链式反应—限制性片断长度多态性(PCR-RFLP)及琼脂糖凝胶电泳法分析105例单纯性肥胖儿童及98例健康儿童ACE基因的基因型及等位基因频率并测定两组儿童血清三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDLC)、低密度脂蛋白胆固醇(LDLC)浓度,并测定两组儿童血压、身高和体质量,按公式计算其体质指数(BMI)。结果检出3种ACE基因第16内含子的基因型D/D、D/I、I/I。与健康儿童相比,单纯性肥胖儿童具有较高的D/D基因型频率(27.5%)及D等位基因频率(43.75%)。D/D型儿童与D/I型和I/I型儿童相比具有较高水平血TG、TC、LDL-C及收缩压、舒张压、BMI和较低水平的血HDL-C。结论健康及单纯性肥胖儿童ACE基因存在多态性,且ACE基因多态性对健康儿童及肥胖儿童的血脂代谢、体脂分布及血压均有影响。

Objective To explore the distribution of polymorphisms of 16th intron for angiotensin converting enzyme（ACE） gene（insertion/deletion,I/D） and frequency of D-allele in healthy children and patients with simple obesity,and investigate the impact of polymorphisms for ACE gene on lipid metabolism and blood pressure in chi1dren with simple obesity.Methods One hundred and five children with simple obesity were enrolled in the study,and 98 healthy children were studied as controls.Polymerase chain reaction restriction fragment length polymorphism（RFLP） and polyacrylamide gel electrophoresis were used to analyze the variation of the ACE gene and frequency of D allele.Serum triglyceride（TG）,total cholesterol（TC）,high density lipoprotein cholesterol（HDL-C）,and low density lipoprotein cholesterol（LDL-C） were tested,height and weight were measured,and their body mass indexes（BMI） were calculated as well.Results Three genotypes of 16th intron of ACE gene（D/D,D/I,I/I） were detected.Compared with control subjects,D-allele frequency and D/D frequency of ACE gene were higher in simple obesity children（43.75% and 27.5%,respectively,P〈0.05）.The comparison among heterozygotus simple obesity children showed that the levels of the TG and TC,LDL-C and blood pressure,BMI were higher,while HDL-C was lower in children with D/D genotype（P〈0.01）.Conclusions There is polymorphism of the ACE gene in healthy and obesity children.The ACE gene affects lipid metabolisms,distribution of lipids,and blood pressure in children.