• Functional changes in miRNA due to Single Nucleotide Polymorphism in the rectal cancer
  • Fatemeh Eskandari,1 Pegah Javid,2 Mansoureh Azadeh,3,*
    1. Zist Fanavari Novin biotechnology institute
    2. Zist Fanavari Novin biotechnology institute
    3. Zist Fanavari Novin biotechnology institute


  • Introduction: Rectal cancer is a disease in which malignant (cancer) cells form in the tissues of the rectum. Rectal cancer occurs when cells in the rectum mutate and grow out of control. The Rectum starts at the end of the final segment of your colon and ends when it reaches the short, narrow passage leading to the anus. In the current study, we have researched the reverse effect of a single nucleotide polymorphism (SPN: rs374284482) while converting C to T at the seed match of miR-1249-3p to 3'UTR sequence of ETHE1 gene. The ETHE1 gene is a member of the metallo-beta-lactamase family, which encodes iron-containing proteins. The ETHE1 gene located on chromosome 19.
  • Methods: For this purpose, GEO datasets showed the top 250 differentially expressed genes. The David database was used to cluster the gens and it revealed the involved genes in transcriptional misregulation pathway in cancer including ETHE1 gene. The miRNASNP-v3 database showed the relationship between studied miNA and SNP.
  • Results: The results showed that binding to the 3'UTR region of ETHE1, the miR-1249-3p blocks gene's expression, and acts as a tumour suppressor in rectal cancer. The occurrence of rs374284482 (C/T on chr22:45200977) in the seed match of miR-1249-3p ( chr22:45200973-45200979) and ETHE1 (chr19:42506718-43506849), made the binding to be lost. It makes the gene not to be under the control of miRNA anymore and upregulation will occur.
  • Conclusion: Thus, our data suggest that rs374284482 is a disease-associated SNP since as a common polymorphism in miR-1249-3p affects the regulation of the ETHE1 gene and result in the genetic predisposition to rectal cancer. It is role in the tumorigenesis through somatic mutation Preliminary evidence suggests that these effects are mediated through target genes which expressions are affected by the SNP status.
  • Keywords: rectal cancer, ETHE1 gene, miR-1249-3p, rs374284482