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Frequencies of five genetic polymorphisms in coronarographed patients and effects on lipid levels in a supposedly healthy population
Author(s) -
RégisBailly Anne,
Visvikis Sophie,
Steinmetz Josiane,
Feldmann Luc,
Briançon Serge,
Danchin Nicolas,
Zannad Faiez,
Siest Gérad
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.tb02385.x
Subject(s) - apolipoprotein b , allele , endocrinology , lipoprotein lipase , genotype , biology , medicine , polymorphism (computer science) , genetics , allele frequency , population , cholesterol , gene , environmental health , adipose tissue
Allele frequencies of genetic polymorphisms were compared between supposedly healthy subjects and angiographically proven coronary artery disease patients. The polymorphic candidate loci investigated were the apolipoprotein (apo) B signal peptide and Xba I polymorphisms, the apo E polymorphism and two polymorphisms of lipoprotein lipase (LPL) gene: Hind/ III and PvuII. Apo B signal peptide and Hind III/LPL polymorphisms showed significant differences in allele partition between cases and controls; the rare alleles of both polymorphisms were less frequent (p<0.05) in cases. We looked for associations between the polymorphisms and lipid concentration variability in a supposedly healthy population (145 men and 144 women). Apo B signal peptide, apo E and Pvul II/LPL polymorphisms seem to influence some lipid metabolism parameters significantly. Apo AI and LpCIII levels were significantly different among apo B signal peptide genotypes: Del homozygotes had the highest concentrations of both variables. The e4 allele of apo E polymorphism was associated with increased concentrations of total cholesterol, LDL cholesterol and apo B. Increased LpAI:AII levels observed in E3 homozygotes (p<0.01) have not previously been reported. LpAI:AII concentration was also influenced by Pvu II/LPL polymorphisms.