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载脂蛋白B基因座DNA中的XbaI多态性与心肌梗死(MI)相关。

XbaI polymorphism in DNA at the apolipoprotein B locus is associated with myocardial infarction (MI).

作者信息

Bohn M, Bakken A, Erikssen J, Berg K

机构信息

Institute of Medical Genetics, University of Oslo, Norway.

出版信息

Clin Genet. 1993 Nov;44(5):241-8. doi: 10.1111/j.1399-0004.1993.tb03890.x.

Abstract

High levels of low density lipoprotein (LDL) and its apolipoprotein B (apoB) are risk factors for atherosclerosis and myocardial infarction (MI). There is rich genetic polymorphism in apoB, first detected as the Ag allotypes of LDL, but today mostly examined at the DNA level. Genes contribute to the population variation in LDL and apoB levels and alleles in polymorphisms at the apoB locus are candidate genes with respect to control of lipid levels and susceptibility to atherosclerosis and MI. The XbaI polymorphism at the apoB locus, which involves the third base of threonin codon 2488 (ACC-->ACT) without changing the amino acid sequence was examined in a case-control study comprising 238 survivors of myocardial infarction (MI) and 621 controls. In univariate analysis, frequencies of genotypes in this polymorphism were not statistically different between patients and controls of either sex. However, in multivariate logistic regression analysis, the odds ratio X-X- homozygotes (homozygotes for absence of restriction site) for having MI compared to the pooled group of heterozygotes and X+X+homozygotes (homozygotes for presence of restriction site) was 2.16 (p = 0.007), after adjustments for age, sex, and levels of apoB, high density lipoprotein (HDL) cholesterol (HDLC) and Lp(a) lipoprotein. It appeared that heterozygotes do not have increased risk, compared to the X+X+ homozygotes. Stratification according to low or high levels of apoB, HDLC and Lp(a) lipoprotein, showed that the X-X- genotype was more common in patients than controls, in all subgroups.(ABSTRACT TRUNCATED AT 250 WORDS)

摘要

高水平的低密度脂蛋白(LDL)及其载脂蛋白B(apoB)是动脉粥样硬化和心肌梗死(MI)的危险因素。apoB存在丰富的基因多态性,最初作为LDL的Ag同种异型被检测到,但如今大多在DNA水平进行研究。基因导致了LDL和apoB水平的人群差异,apoB基因座多态性中的等位基因是控制血脂水平以及动脉粥样硬化和MI易感性的候选基因。在一项病例对照研究中,对apoB基因座的XbaI多态性进行了检测,该多态性涉及苏氨酸密码子2488的第三个碱基(ACC→ACT),但不改变氨基酸序列,研究对象包括238例心肌梗死(MI)幸存者和621例对照。在单因素分析中,该多态性的基因型频率在男性和女性患者与对照之间无统计学差异。然而,在多因素逻辑回归分析中,与杂合子和X + X +纯合子(存在限制性酶切位点的纯合子)合并组相比,MI患者中X - X -纯合子(不存在限制性酶切位点的纯合子)的比值比为2.16(p = 0.007),在对年龄、性别以及apoB、高密度脂蛋白(HDL)胆固醇(HDLC)和脂蛋白(a)[Lp(a)]水平进行校正之后。与X + X +纯合子相比,杂合子似乎没有增加的风险。根据apoB、HDLC和Lp(a)脂蛋白的低水平或高水平进行分层显示,在所有亚组中,X - X -基因型在患者中比对照中更常见。(摘要截断于250字)

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