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DNA polymorphisms in linkage disequilibrium at the 3‘ end of the human APO AII gene: relationships with lipids, apolipoproteins and coronary heart disease
Author(s) -
DupuyGorce A. M.,
Desmarais E.,
Vigneron S.,
Buresi C.,
Nicaud V.,
Evans A.,
Luc G.,
Arveiler D.,
MarquésVidal P.,
Cambien F.,
Tiret L.,
Paulet A. Crastes,
Roizés G.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb02624.x
Subject(s) - linkage disequilibrium , biology , genotype , allele , medicine , genetics , single strand conformation polymorphism , population , endocrinology , apolipoprotein b , gene , cholesterol , haplotype , exon , environmental health
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 Nl 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.