Influence of the APOA5 locus on plasma triglyceride, lipoprotein subclasses, and CVD risk in the Framingham Heart Study

Several polymorphisms in the APOA5 gene have been associated with increased plasma triglyceride (TG) concentrations. However, associations between APOA5 and lipoprotein subclasses, remnant-like particles (RLPs), and cardiovascular disease (CVD) risk have been less explored. We investigated associations of five APOA5 single-nucleotide polymorphisms (SNPs; (cid:2) 1131T (cid:2) C, (cid:2) 3A (cid:2) G, 56C (cid:2) G IVS3 (cid:3) 476G (cid:2) A, and 1259T (cid:2) C) with lipoprotein subfractions and CVD risk in 1,129 men and 1,262 women participating in the Framingham Heart Study. Except for the 56C (cid:2) G SNP, the other SNPs were in significant linkage disequilibria, re-sulting in three haplotypes (11111, 22122, and 11211) representing 98% of the population. SNP analyses revealed that the (cid:2) 1131T (cid:2) C and 56C (cid:2) G SNPs were significantly associated

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