ABSTRACT
Background: Cardiomyopathy is an anatomic and pathologic diagnosis associated with muscle or electrical dysfunction of the heart. Cardiomyopathies represent a heterogeneous group of diseases that often lead to progressive heart failure with significant morbidity and mortality. Cardiomyopathy and myocarditis resulted in 443,000 deaths in 2013 up from 294,000 in 1990. Objective: The main objective of the present study is to observe the association of cardiomyopathy and genetic markers such as red cell enzymes namely, Esterase D [ESD] and Super oxide dismutase [SOD] and plasma proteins namely, Haptoglobin [HP] and Group specific component [GC] systems. Methods: In the present study, fifty cases presenting cardiomyopathy and fifty cases of age and sex matched healthy controls were included. Red cell enzymes were determined by standard agarose gel electrophoresis. Plasma samples were typed using PAGE electrophoresis. The statistical significance of differences between patients and controls were tested. Analysis of the data was carried out using Epi Info 5 software. Relative risk was calculated by the random-effects method. For odds ratio, confidence interval was calculated. The significance level was 5%. Results: The inter group heterogeneity for ESD and SOD of red cell enzymes and GC system of plasma proteins was found to be a significant value (ESD: χ2 =10.2564; d.f. = 2; 0.01>p>0.001; SOD: χ2 = 11.1120; d.f. = 2; 0.01>p>0.001; GC: χ2 = 15.5044; d.f. = 2; p>0.001), when observed between cardiomyopathy patients and controls. Thus, all the examined groups were deviating from Hardy-Weinberg equilibrium indicating a significant association between cardiomyopathy and these red cell enzymes and plasma protein markers. There was a predominant occurrence of Haptoglobin 2 phenotype in patients when compared to controls. Risk estimates show significant association with both ESD and GC systems with an increased risk of 100% and more, indicating that individuals with ESD (2-2 and 2-1) and GC (2-1) phenotypes are more likely to get the disease when compared with the other phenotypes of the ESD and GC systems. Conclusions: Out of seven genetic markers, four markers (ESD, SOD, HP and GC) are found to be significant i.e. they show some relation with the cardiomyopathy which influences the disease. Furthermore studies on genetic markers, to be attempted in future, would certainly enlighten us to assess the role of these polymorphic systems in different cardiomyopathies.
ABSTRACT
Background: One of the most frequently-occurring micro vascular complications is diabetic neuropathy (DN). Diabetic nephropathy (DN) affects approximately one third of people with type 1 or type 2 diabetes mellitus The objective of the study is an attempt to examine functional SNPs primarily at the position on gene of TNF-α (-308 G/A, rs 1800629), IL-10 (-1082 G/A, rs 1800896) and IFNγ (+874 A/T, rs 62559044) in order to establish their association with peripheral neuropathy patients with type 2 diabetes. Methods: 150 cases presenting Diabetic neuropathy and 160 cases of age and sex matched healthy controls were included in the study. ARMS PCR was done for genotyping of TNF-α (-308), IL-10 (1082 G/A) and IFNγ (+874) polymorphism using allele specific primers for detection of single nucleotide polymorphisms. Analysis of the data was carried out using Epi Info 5 software. In addition, the gene frequencies were estimated and goodness of fit between the observed and expected phenotype frequencies was tested. Multifactor Dimensionality Reduction (MDR) analysis was performed to study case-control data and gene-gene interactions. Results: The results revealed that the chi- square test for heterogeneity for IL-10 system was found to be significant (χ² = 16.2380; d.f = 2; p >0.001) between patients and controls, indicating a significant departure from the HWE. Thus, the test of association of both homogeneity and heterogeneity of IL-10 showed a significant difference, indicating an association of IL-10 with diabetic neuropathy.SNPs at position −308 promoter gene of TNF-α and IFNγ (+874) were not significantly associated with development of Diabetic Neuropathy. Conclusion: This case-control study suggests that IL-10-1082G/G polymorphism is associated with the susceptibility to diabetic neuropathy in type 2 DM patients. IL-10 serves as an important bio marker in Indian population for their susceptibility to Diabetic Neuropathy as it may play a role in alteration of IL-10 production and the inflammatory responses.