The MTP −493TT genotype is associated with peripheral arterial disease: Results from the Linz Peripheral Arterial Disease (LIPAD) Study

Objectives Microsomal triglyceride transfer protein (MTP) transfers lipids into apoprotein B-containing lipoproteins for secretion from liver, intestine, and heart. We hypothesized the −493T single nucleotide polymorphism in the MTP promoter region to be associated with altered lipoprotein levels and with presence of peripheral arterial disease (PAD). Design and methods 433 patients with symptomatic PAD and 433 controls matched for sex and age from the Linz Peripheral Arterial Disease (LIPAD) study were genotyped cross-sectionally for the −493T single nucleotide polymorphism in the promoter region of the MTP gene. Results The frequency of the −493T allele in patients with PAD was 0.320, whereas it was 0.255 in controls (p < 0.001). The MTP −493TT genotype was independently associated with PAD, even after adjustment for LDL cholesterol. The odds ratio of the −493TT MTP genotype for PAD was 3.18 (95% CI, 1.76–5.71) when adjusted for current smoking, arterial hypertension, LDL cholesterol, triglycerides, glycohemoglobin, C-reactive protein, and homocysteine. Furthermore, we found an association between the MTP promoter polymorphism and the apolipoprotein B-containing lipoproteins total-cholesterol (p = 0.011), LDL cholesterol (p = 0.002) and apolipoprotein B (p = 0.034). Conclusions Our results provide preliminary evidence for a potential role of the MTP −493TT genotype in the pathogenesis of PAD.