DNA polymorphisms in linkage disequilibrium at the 3' end of the human APO AII gene: relationships with lipids, apolipoproteins and coronary heart disease
Details
Serval ID
serval:BIB_C38C6287F351
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
DNA polymorphisms in linkage disequilibrium at the 3' end of the human APO AII gene: relationships with lipids, apolipoproteins and coronary heart disease
Journal
Clinical Genetics
ISSN
0009-9163 (Print)
ISSN-L
0009-9163
Publication state
Published
Issued date
1996
Peer-reviewed
Oui
Volume
50
Number
4
Pages
191-198
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Abstract
Two investigations were undertaken to analyze the 3' region of the apolipoprotein AII (Apo AII) gene in patients with myocardial infarction (MI) and controls. Previous studies have suggested that a MspI polymorphism in this gene may be associated with hypertriglyceridaemia, high levels of HDL cholesterol and Apo AII. To verify this hypothesis, the distribution of MspI genotypes and their possible associations with several plasma lipid variables were studied in 882 subjects (411 cases with MI and 471 controls) from the ECTIM study. There were no differences in genotype and allele frequencies between cases and controls, and no differences in lipid variable levels in controls carrying the less frequent MspI allele vs other controls. Using single-strand conformation polymorphism (SSCP) analysis, we detected a new polymorphism which caused by a C-to-T transition located in the third intron near the splice junction site (acceptor). This polymorphism modifies a Bst N1 restriction site. The ECTIM population was screened for this new marker, and no significant associations with MI and plasma lipid levels were found. Our results suggest that these two variants located in the coding region of the Apo AII gene are unlikely to contribute significantly to the level of plasma lipid variables and the risk of coronary heart disease (CHD) in the European population.
Keywords
Apolipoprotein A-II/blood, Apolipoprotein A-II/genetics, Apolipoproteins/blood, Lipids/blood, Myocardial Infarction/genetics
Pubmed
Web of science
Create date
01/12/2016 15:02
Last modification date
20/08/2019 15:38