Objectives Dilated cardiomyopathy (dilated cardiomyopathy, DCM), mainly characterised by left ventricular or the right ventricle significantly expanded, and associated with ventricular systolic dysfunction, malignant ventricular arrhythmia, is a myocardial disease. Its molecular basis is not yet clearly known, also with no specific therapeutic method. The slow onset of any age may be the disease, more common 20 to 50 years old. with male more than female. When patient have an exiting cardiac dysfunction, the symptoms are also developed. The 5-year fatality rate of the disease was 35%, 10-year fatality rate was 70%. Therefore, it is very essential to establish mathematics model for prevention of DCM to provide reliable preventive index. To evaluate the risk of DCM-related susceptibility gene polymorphisms, we studied the potential susceptibility genetic locus of single nucleotide polymorphisms (SNPs) both in control and case group. The study of SNPs could further provide a evidence of molecular biology for DCM population screening strategy. So this study can help us early find out and take prevention to those patients who were at high risk of DCM susceptible, and also provide the basis of gene therapy targets, and finally effectively reduce and delay the morbidity and mortality of population of DCM.
Methods In this study, we investigated 120 cases of idiopathic dilated cardiomyopathy (case group) and 120 healthy subjects (control group), and we analysed the gene loci of TNF-a (-308 and -238), IL-1β (-511), IL-10 (-592) genotype via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) or sequence-specific primers (PCR-SSP). Then, we calculated genotype points and frequencies of allele and took the difference among genotypes. Finally, we uesd univariate logistic regression analysis by the stratification of sex based on the total sample and analysed the independent, susceptible and protective genotype and allele by multivariate logistic regression analysis.
Results Through the analysis of allelic gene OR values, we could get the results that the allelic genotype OR values (95%CI) of TNF-α (-238G/A), IL-1β (-511C/T) and IL-10 (-592A/C) are respectively 1.049 (1.033, 2.149), 1.576 (1.091, 2.279), 1.535 (1.058, 2.227); the pure genotype OR values (95%CI) of TNF-α (-238G/A), IL-1β (-511C/T) and IL-10 (-592A/C) are respectively 1.756 (0.913, 3.379), 1.998 (1.072, 3.726), 1.957 (1.033, 3.708). In control group, the gene polymorphism of TNF-α (-308G/A) is not significantly different to case group. However, the genetic locus of IL-1β (-511C /T) is significantly different compared with case group by using the multivariate logistic regression analysis.
Conclusions The gene polymorphism of TNF-α (-238G/A), IL-1β(-511C/T) and IL-10(-592A/C) are associated with the risk of DCM, however the gene polymorphism of TNF-α (-308G/A) is not significantly correlated with the risk of DCM. Removing the influence of other factors, we could easily arrive at the conclusion that the gene polymorphism of IL-1β (-511C /T) is still clearly correlated with DCM by using the multivariate logistic regression analysis.