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通过脂质门诊确诊的家系中载脂蛋白B定量水平个体间变异的来源。

Sources of interindividual variation in the quantitative levels of apolipoprotein B in pedigrees ascertained through a lipid clinic.

作者信息

Pairitz G, Davignon J, Mailloux H, Sing C F

机构信息

Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia.

出版信息

Am J Hum Genet. 1988 Sep;43(3):311-21.

PMID:3414686
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715383/
Abstract

The quantitative level of apolipoprotein (apo) B associated with low-density lipoprotein (LDL) varies among individuals within the population. This variation in level of the LDL receptor ligand appears to have predictive value, and may have an etiologic role, in coronary artery disease. Complex segregation analysis was used to compare eight different models of transmission. This study confirms the existence of allelic variations at a single genetic locus with large effects on the interindividual variation in the level of the serum apo B associated with LDL. This is the first study to consider the possible effects of inherited polymorphic variation in the apo E molecule when analyzing the components of variation in apo B associated with LDL. Our analyses suggest that the common alleles coding for the apo E polymorphism act independently of the unmeasured single-gene locus characterized by this study.

摘要

与低密度脂蛋白（LDL）相关的载脂蛋白（apo）B的定量水平在人群中的个体之间存在差异。这种LDL受体配体水平的差异似乎具有预测价值，并且可能在冠状动脉疾病中具有病因学作用。采用复杂分离分析来比较八种不同的传递模型。本研究证实了在单个基因位点存在等位基因变异，其对与LDL相关的血清apo B水平的个体间变异有很大影响。这是第一项在分析与LDL相关的apo B变异成分时考虑apo E分子遗传多态性变异可能影响的研究。我们的分析表明，编码apo E多态性的常见等位基因独立于本研究中鉴定的未测量单基因位点发挥作用。

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Sources of interindividual variation in the quantitative levels of apolipoprotein B in pedigrees ascertained through a lipid clinic.通过脂质门诊确诊的家系中载脂蛋白B定量水平个体间变异的来源。
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本文引用的文献

1
Apoproteins and lipids as discriminators of severity of coronary heart disease.载脂蛋白和脂质作为冠心病严重程度的判别指标。
Atherosclerosis. 1980 Sep;37(1):157-62. doi: 10.1016/0021-9150(80)90104-5.
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Lipoprotein-cholesterol distributions in selected North American populations: the lipid research clinics program prevalence study.北美特定人群中的脂蛋白胆固醇分布：脂质研究诊所项目患病率研究
Circulation. 1980 Feb;61(2):302-15. doi: 10.1161/01.cir.61.2.302.
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Standardization of immunoassays for the quantitation of plasma Apo B protein.
Anal Biochem. 1981 Sep 1;116(1):204-10. doi: 10.1016/0003-2697(81)90345-6.
4
Improved method for quantitation of B apoprotein in plasma lipoproteins by electroimmunoassay.用电免疫分析法定量测定血浆脂蛋白中B载脂蛋白的改进方法。
Clin Chem. 1981 Jun;27(6):892-5.
5
Association of hyperapobetalipoproteinemia with endogenous hypertriglyceridemia and atherosclerosis.高载脂蛋白B血症与内源性高甘油三酯血症及动脉粥样硬化的关联。
Ann Intern Med. 1982 Dec;97(6):833-9. doi: 10.7326/0003-4819-97-6-833.
6
A mixed-model likelihood approximation on large pedigrees.大型家系的混合模型似然近似法。
Comput Biomed Res. 1982 Jun;15(3):295-307. doi: 10.1016/0010-4809(82)90064-7.
7
Plasma apolipoprotein B and VLDL-, LDL-, and HDL-cholesterol as risk factors in the development of coronary artery disease in male patients examined by angiography.通过血管造影检查的男性患者中，血浆载脂蛋白B以及极低密度脂蛋白胆固醇、低密度脂蛋白胆固醇和高密度脂蛋白胆固醇作为冠状动脉疾病发生的风险因素。
Atherosclerosis. 1981 Jun;39(3):411-24. doi: 10.1016/0021-9150(81)90026-5.
8
Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins].冠状动脉粥样硬化与高载脂蛋白血症的关联[人血浆低密度（β）脂蛋白中蛋白质增加但胆固醇水平正常]
Proc Natl Acad Sci U S A. 1980 Jan;77(1):604-8. doi: 10.1073/pnas.77.1.604.
9
Apolipoprotein E phenotyping with a single gel method: application to the study of informative matings.采用单一凝胶法进行载脂蛋白E表型分析：在信息交配研究中的应用。
J Lipid Res. 1983 Aug;24(8):1060-9.
10
Composition and distribution of low density lipoprotein fractions in hyperapobetalipoproteinemia, normolipidemia, and familial hypercholesterolemia.
Proc Natl Acad Sci U S A. 1983 Nov;80(21):6662-6. doi: 10.1073/pnas.80.21.6662.

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