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目的探讨脂蛋白酯酶(lipoprotein lipase,LPL)基因Ser447Stop位点多态性在人群中的分布以及与代谢综合征(metabolic syndrome,MS)和膳食因素的关系。方法用聚合酶链反应和限制性片段长度多态性方法(PCR-RFLP)方法检测222名MS人群以及222名正常对照人群的LPL基因Ser447Stop位点多态性,同时对研究对象进行体格检查、生化指标测定和膳食调查。结果(1)SS、SX和XX三种基因型的频率分别为85.6%,13.3%和1.1%,符合Hardy-Weinberg定律。MS人群和对照人群的基因型SS、SX、XX及等位基因Ser447和Stop447构成比无差异,三种基因型及等位基因Ser447和Stop447在性别上无显著差异。(2)调整性别和年龄后,三种基因型的甘油三酯(TG)水平差异有显著性意义,SS型的TG最高,XX型的TG最低。(3)调整性别、年龄和体质指数后,三种基因型的蛋白质和碳水化合物摄入差异有显著性。(4)调整性别、年龄和体质指数后,不同基因型人群的蛋白质摄入与血清TG水平的负相关性有显著性意义。结论LPL基因Ser447Stop位点多态性与血清TG水平有关,与蛋白质摄入量有关联:该位点多态性可能会影响对于MS人群膳食干预的易感性。
Objective To investigate the distribution of Ser447Stop polymorphism of lipoprotein lipase (LPL) gene in human population and its relationship with metabolic syndrome (MS) and dietary factors. Methods Polymorphisms of Ser447Stop loci in 222 individuals with MS and 222 controls were detected by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). At the same time, Biochemical determination and dietary survey. Results (1) The frequency of SS, SX and XX genotypes were 85.6%, 13.3% and 1.1% respectively, which accorded with Hardy-Weinberg’s law. There were no significant differences in the genotypes of SS, SX, XX and alleles Ser447 and Stop447 between the MS population and the control population, and no significant differences in sex between the three genotypes and the alleles Ser447 and Stop447. (2) There were significant differences in triglyceride (TG) levels between the three genotypes after adjustment for sex and age, with TG highest in SS and XX lowest in XX. (3) After adjusting for gender, age and body mass index, there were significant differences in protein and carbohydrate intake among the three genotypes. (4) After adjusting for gender, age and body mass index, the negative correlation between protein intake and serum TG level in different genotypes was significant. Conclusion The polymorphism of Ser447Stop locus in LPL gene is associated with serum TG level and protein intake. Polymorphism at this locus may affect susceptibility to dietary intervention in MS population.