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低密度脂蛋白的分解代谢率受载脂蛋白B基因变异的影响。

Catabolic rate of low density lipoprotein is influenced by variation in the apolipoprotein B gene.

作者信息

Demant T, Houlston R S, Caslake M J, Series J J, Shepherd J, Packard C J, Humphries S E

机构信息

Department of Pathological Biochemistry, Royal Infirmary, Glasgow, Scotland.

出版信息

J Clin Invest. 1988 Sep;82(3):797-802. doi: 10.1172/JCI113681.

DOI:10.1172/JCI113681
PMID:2901432
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC303585/
Abstract

This study examines the potential influence of genetic variation on the metabolism of LDL. Restriction fragment length polymorphisms (RFLP) of the gene coding for apo B were identified using the endonucleases Xba I, Eco RI, and Msp I in a group of 19 subjects with moderate hyperlipidemia. There was a significant association between the Xba I polymorphism and the total fractional clearance rate (FCR) of LDL. The individuals with the X1X1 genotype had, on average, a 22% higher FCR (P less than 0.025) than those with the genotype X2X2 (X2 allele = presence of Xba I cutting site). This difference was attributable to increased clearance by the receptor-mediated pathway of LDL catabolism. In this group of subjects, there was no association of LDL kinetic parameters and RFLPs of the LDL receptor gene or the AI- CIII- AIV gene cluster. The data suggest that variation in apo B itself, presumably acting through variable binding to the LDL receptor, makes a significant contribution to the rate of catabolism of LDL.

摘要

本研究考察了基因变异对低密度脂蛋白（LDL）代谢的潜在影响。在一组19名中度高脂血症患者中，使用内切酶Xba I、Eco RI和Msp I鉴定了载脂蛋白B（apo B）编码基因的限制性片段长度多态性（RFLP）。Xba I多态性与LDL的总分数清除率（FCR）之间存在显著关联。X1X1基因型个体的FCR平均比X2X2基因型个体高22%（P<0.025）（X2等位基因=存在Xba I切割位点）。这种差异归因于LDL分解代谢的受体介导途径清除增加。在这组受试者中，LDL动力学参数与LDL受体基因或AI-CIII-AIV基因簇的RFLP无关联。数据表明，apo B本身的变异可能通过与LDL受体的可变结合发挥作用，对LDL的分解代谢速率有显著贡献。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8286/303585/96920d43e35b/jcinvest00081-0058-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8286/303585/61ed05db2fcd/jcinvest00081-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8286/303585/8a9f86e03781/jcinvest00081-0058-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8286/303585/96920d43e35b/jcinvest00081-0058-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8286/303585/61ed05db2fcd/jcinvest00081-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8286/303585/8a9f86e03781/jcinvest00081-0058-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8286/303585/96920d43e35b/jcinvest00081-0058-c.jpg

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