Abstract
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
Highlights
Cardiomyopathies are the heterogeneous group of myocardial disorder in which heart muscle are inflamed, weakened and enlarged leading to heart failure
Two hundred and seventy (n=270) dilated cardiomyopathy (DCM) patients and two hundred and ninety (n = 290) healthy controls were analyzed for the variation in lipid profile and gene polymorphisms in NKX2.5 73C→T by RFLPPAGE using Hha1 and GATA4 by denaturing high-performance liquid chromatography (DHPLC)/sequencing methods (Figure 1)
The results indicated that the nucleotide variation of NKX 2.5 gene is significantly associated with the Dilated cardiomyopathy (DCM) patients compared to the controls (Table 5)
Summary
Cardiomyopathies are the heterogeneous group of myocardial disorder in which heart muscle are inflamed, weakened and enlarged leading to heart failure. Earlier studies have reported that the cardiac transcription factor GATA4 and NKX 2.5 are essential for cardiac development, and mutations in these genes have been implicated in a wide variety of congenital heart diseases in both animal models and humans [2] The expression of these transcription factors extend a large developmental window of cardiogenesis and continues in mature heart. Whether this mutated GATA4 and NKX 2.5 predisposes to sporadic DCM remains unclear
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
