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突尼斯人群载脂蛋白B基因的XbaI多态性:等位基因频率及其与血脂参数的关系

[XbaI polymorphism of apolipoprotein B gene in a Tunisian population: alleles frequencies and relationship with plasma lipid parameters].

作者信息

Kallel A, Jemaa R, Feki M, El Asmi M, Souissi M, Sanhaji H, Haj-Taieb S, Omar S, Kaabachi N

机构信息

Laboratoire de recherche LAB-SM-01, Service de biochimie, Hôpital la Rabta, Tunis, Tunisia.

出版信息

Ann Biol Clin (Paris). 2007 May-Jun;65(3):265-70.

PMID:17502298
Abstract

Apolipoprotein B (Apo B) is a component of chylomicrons, low-density lipoproteins (LDL), very low density lipoproteins (VLDL), and intermediate-density lipoproteins (IDL) and is the ligand for the LDL receptor. Thereby, Apo B plays a central role in lipoprotein metabolism and in maintaining the normal homeostasis of serum cholesterol levels. Several Apo B restriction fragment length polymorphisms (XbaI, EcoRI, MspI) have been reported to be associated with variation in lipid levels, obesity and/or coronary artery disease. To date, no data are available on relationship between XbaI Apo B polymorphism and lipid levels in Tunisian population. Here, we report frequencies of the XbaI polymorphism of the Apo B gene and we assess the effect of this polymorphism on lipid and lipoprotein concentrations in Tunisian population. Blood samples from 296 Tunisian individuals (112 women and 184 men, aged 51.4+/-9.6 years), were analysed for total cholesterol, triglycerides, HDL-cholesterol and apolipoproteins A1 and B. In parallel, genotyping by means of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) was performed. The XbaI polymorphism was associated with differences in plasma cholesterol (p=0.04), triglyceride (p=0.02) and apolipoprotein A1 (p=0.004), individuals with the genotype X1X1 have the lowest mean levels and those with the genotype X2X2 have the highest, with the individuals heterozygous for the polymorphism having intermediate levels. According to sex, the XbaI polymorphism effect was only observed for triglyceride in men. Thus, the results demonstrate an influence of XbaI polymorphism of Apo B gene on serum total-cholesterol, triglycerides and apolipoprotein A1 concentrations among Tunisian population.

摘要

载脂蛋白B(Apo B)是乳糜微粒、低密度脂蛋白(LDL)、极低密度脂蛋白(VLDL)和中间密度脂蛋白(IDL)的组成成分,是LDL受体的配体。因此,Apo B在脂蛋白代谢以及维持血清胆固醇水平的正常稳态中起着核心作用。据报道,几种Apo B限制性片段长度多态性(XbaI、EcoRI、MspI)与血脂水平、肥胖和/或冠状动脉疾病的变异有关。迄今为止,关于突尼斯人群中XbaI Apo B多态性与血脂水平之间的关系尚无数据。在此,我们报告Apo B基因XbaI多态性的频率,并评估这种多态性对突尼斯人群血脂和脂蛋白浓度的影响。对296名突尼斯个体(112名女性和184名男性,年龄51.4±9.6岁)的血样进行了总胆固醇、甘油三酯、高密度脂蛋白胆固醇以及载脂蛋白A1和B的分析。同时,通过聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)进行基因分型。XbaI多态性与血浆胆固醇(p = 0.04)、甘油三酯(p = 0.02)和载脂蛋白A1(p = 0.004)的差异相关,基因型为X1X1的个体平均水平最低,基因型为X2X2的个体平均水平最高,杂合子个体的水平处于中间。按性别划分,XbaI多态性效应仅在男性的甘油三酯中观察到。因此,结果表明Apo B基因的XbaI多态性对突尼斯人群的血清总胆固醇、甘油三酯和载脂蛋白A1浓度有影响。

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