Association between two common polymorphisms (single nucleotide polymorphism ‑250G/A and ‑514C/T) of the hepatic lipase gene and coronary artery disease in type 2 diabetic patients

Variations in the hepatic lipase (HL) gene are the potential candidate for coronary artery disease (CAD) especially in type 2 diabetes mellitus (T2DM) in diverse populations. We assessed the association of ‑514C/T and ‑250G/A polymorphisms in HL (LIPC) gene with CAD risk in Iranian population with type 2 diabetes.

We evaluated 322 type 2 diabetic patients, 166 patients with normal angiograms as controls and 156 patients those identified with CAD undergoing their first coronary angiography as CAD cases. Genotyping of ‑514C/T and ‑250G/A polymorphisms in the promoter of the LIPC gene were studied by polymerase chain reaction (PCR)‑restriction fragment length polymorphism technique.

Genotype distributions in CAD cases (73.7%, 20.5%, and 5.8% for −250G/A) and (62.2%, 32.7%, and 5.1% for ‑514C/T) were significantly different from those in controls (60.8%, 37.4%, and 1.8% for ‑250G/A) and (51.2%, 48.2%, and 0.6% for ‑514C/T). CAD cases had lower A‑allele frequency than controls (0.131 vs. 0.196, P = 0.028). The odds ratio for the presence of ‑250 (GG + GA) genotype and A allele in CAD cases were 2.206 (95% confidence interval [CI] =1.33–3.65, P = 0.002) and 1.609 (95% CI = 1.051 −2.463, P = 0.029) respectively. Haplotype analysis demonstrated a significant association between especially LIPC double mutant (−250 A/‑514 T) haplotype and presence of CAD.

Our findings indicated that ‑250 G/A polymorphism rather than ‑514 C/T polymorphism of LIPC gene is more associated with the increased risk of CAD particularly in women with T2DM.