Resistin gene promoter region polymorphism and the risk of hypertrophic cardiomyopathy in patients

Resistin, a novel cytokine, is associated with an inflammatory process and is suggested to induce hypertrophy in rat cardiomyocytes. Resistin gene expression has not been investigated in patients with hypertrophic cardiomyopathy (HCM). This study investigates resistin levels in HCM patients and healthy controls and the molecular basis for the regulation of the resistin gene (RETN) in a Pakistani population. Patients with HCM (n = 105) and healthy individuals (n = 110) were enrolled in this investigation. Serum resistin levels were determined by enzyme-linked immunosorbent assay (ELISA). RETN genotyping was performed by polymerase chain reaction (PCR) and DNA sequencing. Our data showed a statistically significant increase in resistin levels from HCM patients compared with healthy subjects (6.3 ± 2.7 ng/mL in patients vs 3.4 ± 2.1 ng/mL in controls, P < 0.0001). The RETN –420 C > G polymorphism was significantly high in patients with HCM compared with the control group (P < 0.001). There was a significant difference between the C and G alleles from HCM cases and controls (odds ratio [OR] = 3.54, 95% confidence interval [CI] = 2.36–5.30, P < 0.0001). Logistic-regression analysis showed that the increased resistin levels, and the RETN–420 C > G polymorphism were significantly associated with HCM. Our data suggest that the elevated resistin levels and the RETN –420 C > G polymorphism may be associated with cardiac hypertrophy in the study population.

Abbreviations: ECG, electrocardiography, EDTA, ethylenediamine tetra acetic acid, HCM, hypertrophic cardiomyopathy, HDL-C, high-density cholesterol, IRB, Institutional Review Board, LDL-C, low-density cholesterol, PCR, polymerase chain reaction, RETN, resistin gene, SNPs, single-nucleotide polymorphisms, TC, total cholesterol, TG, triglycerides