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No association of apolipoprotein A-IV codon 347 and 360 variation with atherosclerosis and lipid transport in a sample of mixed hyperlipidemics.

TitleNo association of apolipoprotein A-IV codon 347 and 360 variation with atherosclerosis and lipid transport in a sample of mixed hyperlipidemics.
Publication TypeJournal Article
Year of Publication1995
AuthorsCarrejo MH, Sharrett R, Patsch W, Boerwinkle E
JournalGenet Epidemiol
Volume12
Issue4
Pagination371-80
Date Published1995
ISSN0741-0395
KeywordsApolipoproteins A, Arteriosclerosis, Base Sequence, Biological Transport, Codon, Female, Gene Frequency, Genetic Linkage, Genetic Variation, Genotype, Humans, Hyperlipidemias, Lipid Metabolism, Male, Middle Aged, Molecular Sequence Data, Polymorphism, Genetic, Risk
Abstract

Genetic variation at the apolipoprotein (apo) A-I/C-III/A-IV gene cluster on chromosome 11 has been associated with differences in occurrence of atherosclerosis and with variability in lipid levels among hypercholesterolemic-hypertriglyceridemic individuals. The functional cause of the association is not known, but polymorphisms of the apo A-IV gene are of interest because apo A-IV is involved in both triglyceride and cholesterol metabolism. Two mutations in the apo A-IV gene, 347T->S and 360Q->H, are known to cause amino acid substitutions in the mature protein. These polymorphisms were typed in a sample of 119 subjects with high cholesterol and high triglycerides in whom carotid artery wall thickness was previously shown to be strongly associated with silent polymorphic variation in the A-I/C-III/A-IV gene cluster. The relative allele frequencies were 0.83 and 0.17 for codon 347T->, and 0.95 and 0.05 for codon 360Q-> H. These polymorphisms did not show a statistically significant relationship with prevalent hypertension, diabetes, or cardiovascular disease or with plasma lipid levels. Most importantly, these amino acids substitutions in apo A-IV were not associated with carotid artery wall thickness. Therefore, the genetic cause of disease variability in a sample of mixed hyperlipidemics is not amino acid substitutions in codons 347 or 360 of the apoliproteins A-IV gene.

DOI10.1002/gepi.1370120405
Alternate JournalGenet Epidemiol
PubMed ID8536954
Grant ListHL-27341 / HL / NHLBI NIH HHS / United States
HL-40613 / HL / NHLBI NIH HHS / United States
N01-HC55015 / HC / NHLBI NIH HHS / United States