胆固醇7α-羟化酶基因多态性与儿童血脂水平的关系

目的:探讨胆固醇7α-羟化酶(CYP7A1)基因多态性与儿童血脂水平的关系。方法:采用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)对216例健康儿童CYP7A1基因的A-204C基因座进行Eco31Ⅰ酶切多态性分析,血脂测定在全自动化分析仪上进行。结果:研究人群中CYP7A1基因的三型频率分别为:AA型6.0%,AC型26.4%、CC型67.6%。AA基因型在LDL-C,TC,Lp(a)水平上均低于其他基因型,并且其差异具有显著性(P<0.05)。CC基因型在HDL-C水平上均高于其他基因型,且其差异具有显著性(P<0.05)。三型在ApoA上两两之间均存在显著性差异,而在TG中无显著性差异。结论:CC基因型在研究人群中所占的比例最高,AA基因型所占的比例最小。CYP7A1的基因多态性与儿童的血脂水平存在密切的关系。

Relationship of 7 Alpha-hydroxylase Gene Polymorphism with Serum Lipid Levels in Children

Objective: To study the relationship between the polymorphism in CYP7A1 gene and the serum lipid levels of children in Han population in Hubei province.Methods: A total of 216 healthy children who were randomly selected from the school were involved in this study.The frequency distribution of the polymorphism in nucleotide A-204C of 7α-hydroxylase gene was detected by using PCR-RFLP.The serum lipid levels were determined using an automatic chemistry analyzer.Results: The frequencies of AA,AC and CC genotypes were 6.0%,26.4% and 67.6%,respectively.The levels of low density lipoprotein cholesterol(LDL-C),total cholesterol(TC) and lipoprotein(a) of the children with AA genotype were lower than those with other genotypes(P<0.05),but the levels of high density lipoprotein cholesterol(HDL-C) of children with CC genotype were higher than those with other genotypes(P<0.05).There were no significant differences of the genotypes in triglcycerides(TG) while were significant differences among the three genotypes in ApoA.Conclusion: CC genotype is the most common one in children.There was significant correlation between the polymorphism of the CYP7A1 gene and lipid levels.