1. Polymorphisms of genes of TGF-beta pathway and susceptibility to colorectal cancer
- Author
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VACCARINO, Loredana, PALMERI, Marisa, SCOLA, Letizia, CARUSO, Calogero, COLONNA ROMANO, Giuseppina, CANDORE, Giuseppina, BALISTRERI, Carmela Rita, LIO, Domenico, FORTE, Giusi Irma, Palmeri, S, Bova, M, Vaccarino, L, Palmeri, M, Scola, L, Palmeri, S, Bova, M, Caruso, C, Colonna-Romano,G, Candore, G, Balistreri, CR, Lio, D, and Forte, G
- Subjects
TGF-beta pathway, colorectal-cancer, genes,polymorphisms ,Settore MED/05 - Patologia Clinica - Abstract
Background: Genetic background implicated in cytokine network may have a key role in the susceptibility to colorectal cancer (CRC). The TGF-β pathway is involved in several biological processes, including cell proliferation, differentiation, migration and apoptosis. Methods: rs1800471 SNP polymorphism of TGF-ß1 rs334348 and rs334349 of TGF-βR1, rs900 of TGF-β2 and rs4522809 of TGF-β2R2 were typed in a group of 82 patients affected by sporadic CRC and in 237 age- and sex-matched healthy controls, using a competitive allele specific PCR assays (KASPar), developed by KBioscience (England). Results: No significant genetic contribution has been observed for 3 of the 5 SNPs tested. Indeed, a significant different allelic distribution between patients and controls has been observed for the polymorphism G→C (rs1800471) responsible for an arginine vs. proline missense change (R25P) in codon 25 of the TGF-β gene (P = 0.021). By this analysis, a weak protective role would emerge for the minor allele C in the susceptibility to the disease. Furthermore the analysis of genotype and allelic frequencies of rs4522809 showed a statistically significant difference (p =0,0016 and P = 0,0019 respectively) between patients and controls. Conclusions: All together these results, suggest that functional relevant SNPs of TGF-beta pathway might be involved in susceptibility to CRC, influencing the extension and severity of the disease.
- Published
- 2012