Page 54 - SDIR5 Abstract book 21 12 2021.
P. 54

POSTER PRESENTATIONS



               P14



                                Genetic analysis of SMAD7 3′UTR in human colorectal cancer

                            1
                                             2
                                                               3
                                                                             3
                 Jovana Rosic , Marko Miladinov , Sandra Dragicevic , Tamara Babic , Zoran Krivokapic 1,2,4 , Aleksandra
                                                           Nikolic 3
                                          1 Faculty of Medicine, University of Belgrade, Serbia
                                  2 Clinic for Digestive Surgery, University Clinical Center of Serbia, Serbia
                           3 Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia
                                            4 Serbian Academy of Sciences and Arts, Serbia


               Background: SMAD7 is a pleiotropic regulator with an inhibitory role pivotal for the control of the TGF-β
               pathway. Several SMAD7 variants have been associated with colorectal cancer (CRC) risk and proven to
               disrupt the SMAD7-mediated regulation of the TGF-β cascade involved in malignant cell processes. This
               study aimed to analyze SMAD7 3′UTR variants in CRC tumor tissue, considering their relevance for the
               regulation of gene expression. Patients and Methods: Primary tumor tissue samples obtained from 50
               colorectal  cancer patients who  underwent  surgical resection  without  preoperative  chemoradiotherapy
               were used in this study. The 1126 nt long genomic region of SMAD7 3′UTR (48,920,135–48,921,260; Homo
               sapiens GRCh38.p13 Primary Assembly) was analyzed by polymerase chain reaction (PCR) using two primer
               sets  followed  by  direct  DNA  sequencing.  Results:  Two  single  nucleotide  polymorphisms  (SNPs)  were
               detected  in  5  CRC  cases,  rs16950113  (T>C)  in  4  patients  and  rs1050799536  (G>A)  in  one  patient.
               Conclusion: Detected variants should be further functionally annotated since variation in potential miRNA-
               binding  sites  in  the  3′UTR  of  SMAD7  may  modulate  expression  and  increase  susceptibility  to  CRC.
               Furthermore,    in   silico   analysis using   the   PolymiRTS   Database   3.0   (available   at
               https://compbio.uthsc.edu/miRSNP/) predicted that the derived allele of rs16950113 disrupts conserved
               and creates a new miRNA site, indicating its functional impact.

               Keywords: Colorectal Cancer, SMAD7, SNP, 3'UTR

               Acknowledgements. This work was supported by the strategic project of the Serbian Academy of Sciences
               and Arts (grant agreement No 02-2019) Molecular basis of response to chemioradiotherapy in rectal cancer
               - MOHERATEKA, F-69.












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