低密度脂蛋白受体相关蛋白5基因A1330V遗传多态性与高胆固醇血症的关系  

Relationship between LRP5 A1330V polymorphism and hypercholesterolemia

作　　者：郑荣[1] 曾德繁[2] 

机构地区：[1]中南大学湘雅二医院检验科,湖南长沙410011 [2]中南大学湘雅医院检验科,湖南长沙410008

出　　处：《中国现代医学杂志》2007年第8期942-944,947,共4页China Journal of Modern Medicine

摘　　要：目的探讨低密度脂蛋白受体相关蛋白5(LRP5)基因第1330位由丙氨酸向颉氨酸突变(A1330V)的遗传多态性和高胆固醇血症的发病易感性之间的关系。方法用聚合酶链反应(PCR)直接测序,对346例正常者和432例原发性高胆固醇血症患者的A1330V基因多态性进行研究。结果在高胆固醇血症患者中,1330V突变等位基因的发生频率为0.22,而在健康对照组中,1330V突变等位基因的频率为0.14。1330V等位基因的频率在原发性高胆固醇血症患者和健康对照组之间差异存在显著性(χ2=16.24,P<0.01),并且此差异只存在于男性人群中,女性人群未见统计学差异。结论LRP5的1330V等位基因是男性人群原发性高胆固醇血症的遗传易感因素。[Objective] To examine the relationship between LRP5 A1330V polymorphism and hypercholesterolemia.[Methods] The genotypes of 346 healthy control and 432 hypercholesterolemia patients were determined by PCR-sequencing.[Results] The allele frequencies of 1330V were 0.22 and 0.14 in hypercholesterolemia patients and in healthy control,respectively.There was significant difference between these two groups(χ2=16.24,P < 0.01)and the difference only exist in males,but not females.[Conclusion] A1330V polymorphism in LRP5 gene is a risk factor of hypercholesterolemia in males.

关 键 词：低密度脂蛋白受体相关蛋白5 基因多态性 A1330V 高胆固醇血症 

分 类 号：R589.2[医药卫生—内分泌]