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Updated: Jun 28, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The association between dilated cardiomyopathy and RTN4 3'UTR insertion/deletion polymorphisms
1Laboratory of Molecular Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu 610041, PR China.
Genetic variations in the RTN4 gene, specifically the TATC polymorphism, are associated with dilated cardiomyopathy (DCM). This finding may offer new insights into the genetic underpinnings of DCM.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Background:
- Nogo isoforms (A, B, C) are reticulon proteins, with Nogo-B regulating vascular remodeling.
- RTN4 gene polymorphisms (TATC and CAA) have inconsistent links to psychiatric disorders.
- The association of RTN4 polymorphisms with dilated cardiomyopathy (DCM) remains unexplored.
Purpose of the Study:
- To investigate the association between RTN4 gene polymorphisms (TATC and CAA) and dilated cardiomyopathy (DCM).
Main Methods:
- Genotyping of RTN4 TATC and CAA insertion/deletion polymorphisms in 159 DCM patients and 215 controls.
- Analysis using PCR-polyacrylamide gel electrophoresis.
Main Results:
- The (TATC)(2) allele and (TATC)(2)/(TATC)(2) genotype frequencies were significantly higher in DCM patients compared to controls (P=0.045 and P=0.021, respectively).
- No significant association was found for the RTN4 CAA insertion/deletion polymorphism in DCM patients.
Conclusions:
- The RTN4 TATC polymorphism, specifically the (TATC)(2) allele and (TATC)(2)/(TATC)(2) genotype, is associated with an increased risk of DCM.
- These findings suggest a potential genetic link between RTN4 variations and the development of dilated cardiomyopathy.
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Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life