与血脂水平相关的等位基因图谱研究进展  

The study of the spectrum of alleles that contribute to blood lipid concentrations in humans

作　　者：韩爱忠[1,2] 汪俊军[1] 

机构地区：[1]南京军区南京总医院解放军临床检验医学研究所,南京210002 [2]南京师范大学生命科学学院

出　　处：《医学研究生学报》2010年第10期1093-1097,共5页Journal of Medical Postgraduates

基　　金：国家自然科学基金(30872411)

摘　　要：研究表明,至少有19个基因区域具有共同的与低密度脂蛋白胆固醇(low density lipoprotein-cholesterol,LDL-C)、高密度脂蛋白胆固醇(high density lipoprotein-cholesterol,HDL-C)和(或)三酰甘油(triglyceride,TG)有关的DNA单核苷酸多态性(single nucleotide polymorphisms,SNP)。许多基因的常见变异导致人和(或)小鼠单基因血脂异常,研究基因区域中常见和罕见的变异等位基因图谱有助于血脂研究。全基因组研究应查明其他的位点,并进行测序,以明确所有相关的等位基因,并获得基因型和表型关系的全图谱,将这些结果应用于临床实践,为临床危险分层和治疗干预靶点提供依据。Genome-wide association studies have defined at least 19 genomic regions that contain common DNA single nucleotide polymorphisms associated with low density lipoprotein cholesterol,high density lipoprotein cholesterol and/or triglycerides.Many of the same loci with common variants have already been shown to lead to monogenic lipid disorders in humans and/or mice,suggesting that a spectrum of common and rare alleles at each validated locus contributes to blood lipid concentrations.Genome-wide association studies should identify additional loci,and sequencing of these loci should pinpoint all relevant alleles.With a full catalog of DNA polymorphisms in hand,a panel of lipid-related variants can be studied to provide clinical risk stratification and targeting of therapeutic interventions.

关 键 词：等位基因图谱 高密度脂蛋白胆固醇 低密度脂蛋白胆固醇 三酰甘油 单核苷酸多态性 

分 类 号：Q755[生物学—分子生物学]