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Background. Dilated cardiomyopathy is a primary myocardial disease and one of the critical causes of heart failure. It is the most common indication for heart transplantation worldwide, and most idiopathic dilated cardiomyopathies are sporadic and multifactorial. Evidence has supported that several inflammatory cytokines and immune responses are involved in its pathological process. Interleukin-32 is a proinflammatory cytokine and is elevated during the worsening cardiac function. Herein, we evaluated the correlation between interleukin-32 gene polymorphisms (rs12934561 and rs28372698) and the susceptibility to dilated cardiomyopathy. Methods. We enrolled 418 dilated cardiomyopathy patients and 437 healthy controls. The polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping the two single-nucleotide polymorphisms (SNPs), and SPSS software was used for statistical analyses. Results. The C allele and CC genotype frequencies of rs12934561 were remarkably elevated in dilated cardiomyopathy patients compared to controls (both P < 0.001). The A allele and AA genotype frequencies of rs28372698 significantly decreased in dilated cardiomyopathy patients (P = 0.004 and P = 0.02 , respectively). Compared to TT/TC genotype carriers of rs12934561, CC homozygotes presented an increased risk of dilated cardiomyopathy when the left ventricular ejection fraction no more than 30% (P = 0.02). Conclusions. The IL-32 gene polymorphisms might implicate in DCM risk in the Chinese Han population, and rs12934561 could be a potential forecasting factor for screening high-risk population for DCM. [ABSTRACT FROM AUTHOR]

Recent studies have suggested that RTN4 is a multifunctional gene, including inhibition of axonal regeneration, vascular remodeling, apoptosis, and tumor suppression. The TATC and CAA insertion/deletion polymorphisms of RTN4 3′-UTR have been linked to schizophrenia, depression, and dilated cardiomyopathy. To test whether these two polymorphisms are associated with cervical squamous cell carcinoma (CSCC), in this research, by using polymerase chain reaction-polyacrylamide gel electrophoresis, we determined the genotypes of the TATC and CAA polymorphisms in 336 CSCC patients and 450 unrelated control subjects. Allele frequencies of TATC and CAA polymorphisms were not significantly different between CSCC patients and control subjects (odds ratio [OR]=1.22, 95% confidence interval [CI]=0.98-1.50 for TATC; OR=0.95, 95% CI=0.76-1.18 for CAA). Decreased CSCC risk was associated with TATC polymorphism in a recessive model (OR=0.49, 95% CI=0.30-0.77), while no significant association was observed between CAA polymorphism and CSCC in different genetic models. Results of stratified analysis revealed that both TATC and CAA polymorphisms were associated with high clinical stage, and CAA polymorphism was also associated with positive parametrial invasion (OR=0.69, 95% CI=0.48-0.98). The present study provides evidence that TATC and CAA insertion/deletion polymorphisms are associated with CSCC, indicating that genetic variation in RTN4 3′-UTR contributes to the susceptibility to CSCC. It is necessary to confirm these findings in ethnically different populations and with a larger sample. [ABSTRACT FROM AUTHOR]

Abstract: Background: Common single nucleotide polymorphisms (SNPs) in pre-microRNAs may change their property through altering microRNAs (miRNAs) expression and/or maturation, resulting diverse functional consequences. We conducted a pilot study to test whether SNPs in pre-microRNAs were associated with dilated cardiomyopathy (DCM). Methods: Genotypes of 3 SNPs in pre-miRNAs (has-mir-196a2 rs11614913 C/T, hsa-mir-499 rs3746444 A/G, hsa-mir-146a rs2910164 C/G) in 221 DCM patients and 321 control subjects were determined with the use of PCR-restriction fragment length polymorphism (RFLP) assay. Results: Significantly increased DCM risks were found to be associated with variant allele of has-mir-196a2 rs11614913 C/T (T allele) and hsa-mir-499 rs3746444 A/G (G allele) (P <0.0001, OR=1.730, 95% CI=1.345–2.227, and P <0.0001, OR=1.794, 95% CI=1.350–2.385, respectively). We found that increased DCM risk was statistically significantly associated with these 2 SNPs in a dominant model (P =0.0001 and P <0.0001 for rs11614913 and rs3746444, respectively). No association between DCM risk and hsa-mir-146a rs2910164 C/G was observed (P =0.451, OR=1.102, 95% CI=0.856–1.418). Conclusions: Both the has-mir-196a2 rs11614913 C/T and hsa - mir - 499 rs3746444 A/G, but not hsa - mir - 146a rs2910164 C/G, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphisms in pre-microRNAs are associated with DCM. [Copyright &y& Elsevier]

Abstract: Background: The Nogo isoforms A, B and C are members of the reticulon family of proteins. Nogo-B is found in most tissues, especially highly expressed in endothelial and smooth muscle cells of the vessel wall, and Nogo-B is a regulator of cell migration in vitro and vascular remodeling in vivo. The TATC and CAA 3′UTR insertion/deletion polymorphisms of the RTN4, the gene encoding Nogo isoforms A, B and C, have been linked to schizophrenia and depression, but data were inconsistent. However, it is unclear whether these polymorphisms are associated with dilated cardiomyopathy (DCM). Methods: A total of 159 DCM patients and 215 control subjects were recruited in this study. The RTN4 TATC and CAA insertion/deletion genotypes were determined using PCR-polyacrylamide gel electrophoresis. Results: Frequencies of (TATC)2 allele and (TATC)2/(TATC)2 genotype were significantly different from that in healthy controls (P = 0.045, OR = 1.356, 95% CI = 1.006–1.827 and P = 0.021, OR = 2.094, 95% CI = 1.113–3.940, respectively). No significant differences in CAA insertion/deletion genotype and allele frequencies were observed between the DCM and controls. Conclusion: These data provide evidence that RTN4 allele (TATC)2 and (TATC)2/(TATC)2 genotype are associated with DCM. [Copyright &y& Elsevier]