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目的探讨脂蛋白脂酶(LPL)基因HindⅢ、S447X多态性与代谢综合征(MS)及其组分的关系。方法采用聚合酶链反应-限制性片段长度多态法检测哈萨克族200例MS患者和201名非MS居民的脂蛋白脂酶HindⅢ、S447X基因型。结果 MS组H+H-/H-H-基因型、H-等位基因、SX/XX基因型、X等位基因频率分别为33.5%,22.0%,10.5%,5.5%明显低于对照组的45.8%,28.6%,22.9%,12.44%(P均<0.05);MS各组分在HindⅢ和S447X不同基因型间差异有统计学意义(P均<0.05);随着MS组分异常的增多,H+H+、SS基因型的携带率有不断增加的趋势。结论 LPL基因HindⅢ、S447X多态性与哈萨克族MS的发病风险相关,其中H+H-/H-H-基因型、H-等位基因、SX/XX基因型、X等位基因可能是MS的保护因素。
Objective To investigate the relationship between the polymorphisms of HindⅢ and S447X in lipoprotein lipase (LPL) and metabolic syndrome (MS) and its components. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the lipoprotein lipase HindⅢ and S447X genotypes in 200 MS patients and 201 non-MS residents in Kazak State. Results The frequencies of H + H- / HH-genotype, H-allele, SX / XX genotype and X allele in MS group were 33.5%, 22.0%, 10.5% and 5.5% %, 28.6%, 22.9%, 12.44%, respectively (all P <0.05). There was significant difference in the genotypes of HindⅢand S447X between MS genotypes (P <0.05). With the increase of MS genotype, H + H +, SS genotype carrier rate has been increasing trend. Conclusions The polymorphisms of HindⅢ and S447X in LPL gene are associated with the risk of MS in Kazakh population. H + H- / HH- genotype, H- allele, SX / XX genotype and X allele may be the protection of MS factor.