肝脂酶启动子250 G/A多态性与血脂的关系

目的探讨各项血脂水平与肝脂酶(HL)启动子250 G/A基因多态性的关系。方法运用聚合酶链反应-限制性内切酶片段长度多态性技术(PCR-RFLP),对112例三酰甘油(TG)正常者和103例高TG者的HL启动子250 G/A基因多态性进行研究。结果发现HL启动子250 AA等位基因频率在高TG组为0.447 7明显高于正常TG组(0.263 4,P<0.05)。在总研究组发现AA型的TG、载脂蛋白B(ApoB)浓度明显高于GG型和GA型,而载脂蛋白A l(ApoA l)则明显降低(P<0.05)。按性别分层后发现AA型女性和男性的TG、低密度脂蛋白胆固醇(LDL-C)的浓度明显高于非AA型同性(P<0.05),而高密度脂蛋白胆固醇(HDL-C)、ApoA l浓度分别低于非AA型的同性(P<0.05)。经Logistic回归分析显示年龄、LDL-C、ApoB、AA型是危险因子,而HDL-C是保护因子。结论HL启动子250 G/A多态性与高TG血症的发生相关,并可影响血浆脂类的代谢,可能是高TG所致疾病的危险因素。

Relationship between hepatic lipase promoter 250 G/A polymorphism and serum lipid concentration

Objective To investigate the relationship between serum lipid concentration and hepatic lipase promoter 250 G/A polymorphism. Methods The hepatic lipase promoter 250 G/A polymorphism of 103 hypertriglyceridemics and 112 healthy subjects were analyzed by polymerase chain reaction-restriction fragment length polymorphism. Results The frequency of AA in hypertriglyceridemics was(0.447 7) and(0.263 4) in healthy subjects.There were significant differences between hypertriglyceridemics and healthy subjects(P<(0.05)).Triglyceride and apoliprotein B(ApoB) levels of AA genotype were higher than that of GG and GA genotype(P<(0.05)).Apoliprotein Al(ApoAl) was lower than that of GG and GA genotype(P<(0.05)).In female and male,the triglyceride and low density lipoprotein cholesterol(LDL-C) levels in individuals with AA genotype were higher than those in same gender individuals without AA genotype.But high density lipoprotein cholesterol(HDL-C) and ApoAl levels were higher than those in same gender individuals without AA genotype.Multivariate logistic regression analysis showed that age,LDL-C,ApoB and AA genotype of the hepatic lipase gene were risk factors and HDL-C level might be potential protective factor. Conclusions Hepatic lipase promoter 250 G/A gene polymorphism is related to hypertriglyceridemics regulated lipid and may influence lipoprotein metabolism.The AA allele may be predictor of risk factor.