Polymorphic Markers in Apolipoprotein C-III Gene Flanking Regions and Hypertriglyceridemia

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Abstract
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 associat...

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