载脂蛋白E基因多态性和胆囊结石形成关系的研究进展

Advances in the study on genetic polymorphism of apolipoprotein E and cholelithiasis

载脂蛋白E(ApoE)是一种影响脂蛋白代谢的遗传多态性蛋白 ,它有E2 、E3和E43种异构体 ,分别由 3个等位基因ε2 、ε3和ε4编码。不同表型的ApoE通过调节脂代谢来影响胆囊胆固醇结石的形成 ,其中ApoE4是促进胆囊结石发生的高危因子。

Apolipoprotein(apo)E is a genetically polymorphic protein that can influence lipoprotein metabolism.The three isoforms (E 2,E 3 and E 4) are determined by three alleles (ε 2,ε 3 and ε 4) at a single gene locus on chromosome 19.The genetic poly morphism of apoE play an important role during the formation of cholesterol gallstones by affecting the cholesterol absorption,synthesis and biliary secretion of cholesterol and bile acid.The presence of ε 4 allele is the high risk factor of cholelithiasis.