Mutational Analysis of GATA4 and NKX2.5 Genes in Dilated Cardiomyopathy Patients

Purpose: To evaluate the lipid profile abnormalities and association of the GATA4 (1232 C→T) and NKX 2.5 (73C→T) gene polymorphisms with Dilated cardiomyopathy (DCM) among Chinese population.
Methods: The blood samples were collected from the Outpatient Department (OPD) of Cardiology Unit, Zhengzhou Central Hospital, China for a period of three years from 2010 – 2013. Dilated cardiomyopathy cases (n = 270) and healthy controls (n = 290) were genotyped using polymerase chain reaction (PCR), restriction fragment length polymorphism, (RFLP) denaturing high-performance liquid chromatography (DHPLC) and sequencing.
Results: Evaluation of the age and sex of the patients indicated that DCM was more prevalent among males (71.1 %) than in females (28.9 %). Mean (± SD) values of the serum total cholesterol and serum LDL-cholesterol were higher in DCM patients (4.37 ± 0.16 and 3.19 ± 0.14 mmol/L, respectively) compared to the control group (4.29 ± 0.18 and 3.06 ± 0.19 mmol/L, respectively), while as there was significantly lower serum mean (± SEM) HDL-cholesterol levels in patients with DCM than in controls (p < 0.001). Exon 1 region of NKX 2.5 gene was screened for variations at 73C→T keeping in view both parameters (age and sex) among healthy controls and DCM patients. The results indicate that the homozygous mutant (TT) and heterozygous mutant (CT) nucleotides were significantly higher in DCM patients than in controls. Further analysis of GATA4 gene revealed that five DCM patients had 1232C/T variant, whereas, it was absent in the control group.
Conclusion: GATA4 1232C/T and NKX 2.5 73C→T polymorphisms and high levels of serum triglycerides (TG) may be associated with the pathogenesis of DCM in the studied population.

Keywords
Dilated cardiomyopathy; Congestive heart failure; Polymerase chain reaction; Restriction fragment length polymorphism; Denaturing high-performance liquid chromatography