胆固醇7α-羟化酶基因多态性与小儿血脂的关系

目的:探讨胆固醇7α-羟化酶(cholesterol 7α-hydroxylase,CYP7A1)基因多态性与湖北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3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。CC基因型在HDL-C水平上均高于其他基因型,并且其差异具有显著性。3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。

Relationships between polymorphism of CYP7A1 gene and serum lipid levels in children

Objective: To study the relationships between the polymorphism of CYP7A1 gene and the serum lipid levels in children in Hubei province.Methods: The study subjects consisted of 216 healthy children who were randomly selected from the school.The frequency distribution of the polymorphism in nucleotide A-204C of 7α-hydroxylase gene was detected using PCR-RELP.The serum lipid levels were determined using automatic biochemical analyzer.Results: The frequencies of AA,AC and CC genotypes were 6.0%,26.4% and 67.6% respectively.There were significant differences in low density lipoprotein cholesterol(LDL-C),total cholesterol(TC),lipoprotein(a) levels among CC,CA and AA genotypes;in children with AA genotype,which were all lower than those in other genotypes(P<0.05);the levels of high density lipoprotein cholesterol(HDL-C) in children with CC genotype were higher than those in other genotypes(P<0.05).There were no significant differences of the genotypes in triglycerides(TG) while significant differences among the three genotypes in ApoA.Conclusion: CC genotype is most common in children,AA genotype is least.There are close relationships between the polymorphism of the CYP7A1 gene and lipid levels in children.