高胆固醇血症相关的基因多态性研究进展  

Advances of gene polymorphism correlated with hypercholesterolemia

作　　者：蒋华新[1] 王书奎[1] 

机构地区：[1]南京医科大学附属南京第一医院中心实验室,江苏南京210006

出　　处：《医学研究生学报》2009年第5期548-551,共4页Journal of Medical Postgraduates

基　　金：南京市科技发展计划项目基金资助(批准号:200603004)

摘　　要：高胆固醇血症为心血管疾病的重要危险因素,其与心血管疾病的并发症及病死率密切相关。高胆固醇血症与诸多基因的多态性相关。以下综述与高胆固醇血症密切相关的低密度脂蛋白受体(LDLR)、载脂蛋白(apo)和前蛋白转化酶枯草溶菌素9(PCSK9)基因及其多态性与高胆固醇血症发生、发展及临床症状间的关系。Hypercholesterolemia is an important risk factor of cardiovascular disease, which is related to complications and mortality of cardiovascular disease. A lot of researches show that some genes polymorphism was related to hypercholesterolemia. This paper introduces the hypercholesterolemia, including LDLR （low-density lipoprotein）, apo （apolipoprotein） and PCSK9 （proprotein convertase subtilisin kexin type 9）, etc, and summed up the relationship between the genes polymorphism and hypercholesterolemia.

关 键 词：高胆固醇血症 基因多态性 低密度脂蛋白受体 载脂蛋白 PCSK9 

分 类 号：R589.2[医药卫生—内分泌]