脂蛋白酯酶基因突变与肥胖儿童心血管疾病危险的研究

Lipoprotein lipase gene mutations and the risk of cardiovascular diseases in children with obesity

目的了解脂蛋白酯酶基因外显子常见突变与肥胖儿童心血管疾病发生发展的关系。方法用聚合酶链反应结合限制性片段长度多态性分析检测脂蛋白酯酶外显子常见的3个突变位点D9N、N291S和S447X,同时检测血脂。比较157例肥胖儿童与175例非肥胖儿童基因突变率的差异,以及不同基因型血脂的分布差异。结果332名肥胖及非肥胖儿童中未检测出D9N和N291S突变,S447X突变在肥胖与非肥胖儿童中分布差异无统计学意义,S447与X447两种基因型间血脂含量差异亦无统计学意义。结论D9N与N291S基因突变可能不是引起肥胖儿童心血管疾病的危险因素,S447X突变对肥胖儿童心血管疾病的发展影响不大。

Objective To inquire into the relationship between lipoprotein lipase （LPL） gene D9N, N291S and S447X polymorphisms and the development of cardiovascular diseases in children with obesity.Methods The polymerase chain reaction （PCR） and restriction fragment length polymorphism （RLFP） techniques were used to detect three common mutations of LPL gene exon D9N, N291S and S447X in 157 obese children and 175 normal controls. Plasma lipid and lipoprotein levels between children with different genotypes were compared.Results The D9N and N291S gene mutations were not detected in either the obese or the control groups. There were no significant differences in the frequency of S447X gene mutation between the two groups. There were no significant differences in the levels of plasma lipid and lipoprotein between children with S447 and X447 genotypes.Conclusions D9N and N291S gene mutations may not be risk factors associated with cardiovascular diseases in children with obesity. S447X gene mutation might not play an important role in the development of cardiovascular diseases in childhood.