ApoE and ApoC-I polymorphisms: association of genotype with cardiovascular disease phenotype in African Americans

Erdembileg Anuurad, Masayuki Yamasaki, Neil Shachter, Thomas A. Pearson, and Lars Berglund

Medicine, University of California Davis, Sacramento, CA 95817

Corresponding Author: lars.berglund{at}ucdmc.ucdavis.edu

Apolipoproteins (apo) E and C-I are components of triglyceride rich lipoproteins and impact on their metabolism. Functional polymorphisms in apoE, but not apoC-I, have been established. We studied the relationship between apoE and apoC-I gene polymorphisms and plasma lipoproteins and coronary artery disease (CAD) in 211 African Americans and 306 Caucasians. In African Americans, but not in Caucasians, apoC-I H2-carriers had significantly lower total and LDL cholesterol and apoB levels, and higher glucose, insulin and HOMA-IR levels compared to H1 homozygotes. Differences across CAD phenotypes were seen for the apoC-I polymorphism. African American H2-carriers without CAD had significantly lower total cholesterol (P<0.001), LDL cholesterol (P<0.001) and apoB (P<0.001) levels compared to H1 homozygotes, while no differences were found across apoC-I genotypes for African Americans with CAD. Among African American apoC-I H1 homozygotes, subjects with CAD had a profile similar to the metabolic syndrome (i.e. higher triglyceride, glucose and insulin) compared to subjects without CAD. For African American H2-carriers, subjects with CAD had a pro-atherogenic lipid pattern (i.e higher LDL cholesterol and apoB levels), compared to subjects without CAD. In conclusion, apoC-I genotypes showed an ethnically distinct phenotype relationship with regard to CAD and CAD risk factors.

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