Association of APOA5 − 1131T > C and S19W gene polymorphisms with both mild hypertriglyceridemia and hyperchylomicronemia in type 2 diabetic patients

Abstract

Background Two minor apolipoprotein A5 ( APOA5) gene haplotypes, represented by − 1131T > C and S19W polymorphisms, are strong determinants of plasma triglyceride (TG) concentration variability across human populations. Hypertriglyceridemia is frequent in type 2 diabetes (T2D) and hyperchylomicronemia is not uncommon. Methods We investigated the association of − 1131T > C and S19W polymorphisms with diabetic dyslipidemia in 400 Caucasian T2D patients divided in 2 groups: group N with 130 normotriglyceridemics (TG < 90th percentile) and group M with 270 moderately hypertriglyceridemics. A third group of 51 diabetic patients (group H) with history of hyperchylomicronemia (TG > 15 mM) was also studied. Results The − 1131C allele was more frequent in both mild and severe hypertriglyceridemia (20.6% vs 9.8% vs 5.0%, group H vs M vs N, p < 0.001). The 19W allele was more frequent only in patients with hyperchylomicronemia (14.0% vs 6.5% vs 6.1%, group H vs M vs N, p = 0.001). In group N + M, the − 1131C allele was associated with higher TG (+ 13%, p = 0.034) and lower HDLc (− 10%, p = 0.004). The 19W allele was only associated with lower HDLc (− 9%, p = 0.022). Conclusion These results suggest that in T2D APOA5 polymorphisms contribute to modulate dyslipidemia. Both − 1131T > C and S19W polymorphisms are associated with hyperchylomicronemia and only − 1131T > C polymorphism with mild hypertriglyceridemia.