PMID: 9167893Apr 1, 1997Paper

Small genetic effects in complex diseases: a review of regulatory sequence variants in dyslipoproteinemia and atherosclerosis

Clinical Biochemistry
R A Hegele

Abstract

Most reported mutations that affect lipoprotein metabolism are found within the coding sequences of genes. Recently, a few mutations that occur within promoter sequences have been detected. These promoter sequence variants are the topic of the present review. Some of these variants are fairly common genomic variants in the promoter regions for candidate genes in lipoprotein metabolism, such as APOA1, APOC3, LPA, and LPL. It is possible that such regulatory sequence variants can result in chronic, modestly altered levels of expression of qualitatively normal gene products. This might have a cumulative effect on quantitative phenotypes, such as plasma lipoprotein concentrations, over the long term. Such an effect might not be detected by existing clinical, biochemical, and/or physiological assays. At present, the most consistent evidence from several lines of experiments indicates that genomic variation in the APOC3 promoter creates slightly elevated plasma triglyceride concentrations within the physiologic range. This altered expression appears to predispose to hypertriglyceridemia in the presence of secondary factors. Genetic variants that produce small effects on promoter function might thus be one component of the predisposit...Continue Reading

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Citations

Oct 17, 2006·Clinical Microbiology Reviews·Joseph MeletiadisThomas J Walsh
Aug 1, 2015·Journal of Clinical Lipidology·Moritz C Wyler von BallmoosFrank M Sacks
Nov 15, 2014·Cell Biochemistry and Biophysics·Chiranjib ChakrabortyGovindasamy Agoramoorthy
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