The association between dilated cardiomyopathy and RTN4 3′UTR insertion/deletion polymorphisms

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]