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Polymorphic markers in apolipoprotein C-III gene flanking regions and hypertriglyceridemia.

TitlePolymorphic markers in apolipoprotein C-III gene flanking regions and hypertriglyceridemia.
Publication TypeJournal Article
Year of Publication1996
AuthorsSurguchov AP, Page GP, Smith L, Patsch W, Boerwinkle E
JournalArterioscler Thromb Vasc Biol
Date Published1996 Aug
KeywordsAdult, Aged, Alleles, Apolipoprotein C-III, Apolipoproteins C, Carotid Arteries, Disease Susceptibility, Female, Gene Frequency, Genes, Genetic Markers, Haplotypes, Humans, Hyperlipoproteinemia Type II, Hypertriglyceridemia, Life Style, Linkage Disequilibrium, Male, Middle Aged, Polymerase Chain Reaction, Polymorphism, Genetic

Hypertriglyceridemia and hyperlipidemia are common disorders associated with coronary artery disease and premature death. The proteins encoded by the apolipoprotein (apo) A-I/C-III/A-IV gene cluster are involved in the metabolism of both triglycerides and cholesterol. In a large sample of individuals from the ARIC study, six polymorphic markers were typed and plasma lipid values were measured to determine whether the well-established association between the Sst I S2 allele in the 3'-untranslated region of the apo C-III gene and hypertriglyceridemia was due to disequilibrium with variation in the 5' regulatory region of the apo C-III gene. The Sst I polymorphism was significantly associated with hypertriglyceridemia (P = .006) but not with carotid artery wall thickness, plasma apo C-III levels, or elevated cholesterol. The frequency of the S2 allele was 0.14 in those with high triglyceride levels and 0.05 in those with low triglyceride levels. None of the 5' flanking polymorphisms were significantly associated with any of the plasma lipids studied. There was substantial linkage disequilibrium between the Sst I polymorphism and each of the 5' apo C-III polymorphisms; however, the significant association between the apo C-III haplotypes and hypertriglyceridemia (odds ratio, 4.0; P

Alternate JournalArterioscler Thromb Vasc Biol
PubMed ID8696957
Grant ListHL-27341 / HL / NHLBI NIH HHS / United States
HL-40613 / HL / NHLBI NIH HHS / United States
N01-HC-55015 / HC / NHLBI NIH HHS / United States