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Ewing Sarcoma: influence of TP53 Arg72Pro and MDM2 T309G SNPs |
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| Authors: | Helena S. Thurow Fernando P. Hartwig Clarice S. Alho Deborah S. B. S. Silva Rafael Roesler Ana Lucia Abujamra Caroline Brunetto de Farias Algemir Lunardi Brunetto Bernardo L. Horta Odir A. Dellagostin Tiago Collares Fabiana K. Seixas |
| Affiliation: | 1. Molecular and Cellular Oncology Research Group, Biotechnology Unit, Technology Development Center (CDTec), Federal University of Pelotas (UFPel), Pelotas, RS, 96010-900, Brazil 2. Post-Graduate Program in Biotechnology, CDTec, UFPel, Pelotas, RS, 96010-900, Brazil 3. Biosciences Faculty, Catholic Pontifical University of Rio Grande do Sul, Porto Alegre, RS, 90619-900, Brazil 4. Laboratory of Neuropharmacology and Neural Tumor Biology, Department of Pharmacology, Institute for Basic Health Sciences, Federal University of Rio Grande do Sul, Porto Alegre, RS, 90050-170, Brazil 5. Cancer Research Laboratory, University Hospital Research Center (CPE-HCPA), Federal University of Rio Grande do Sul, Porto Alegre, RS, 90035-003, Brazil 6. National Institute for Translational Medicine, Porto Alegre, RS, 90035-003, Brazil 7. Children’s Cancer Institute and Pediatric Oncology Unit, Federal University of Rio Grande do Sul, Porto Alegre, RS, 90035-003, Brazil 8. Medical Sciences Program, School of Medicine, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil 9. Post-Graduate Program in Epidemiology, UFPel, Pelotas, RS, 96020-220, Brazil |
| Abstract: | The Ewing Sarcoma is an important tumor of bone and soft tissue. The SNPs Arg72Pro of TP53 and T309G of MDM2 have been associated with many cancer types and have been differently distributed among populations worldwide. Based on a case–control design, this study aimed to assess the role of these SNPs in 24 Ewing Sarcoma patients, compared to 91 control individuals. DNA samples were extracted from blood and genotyped for both SNPs by PCR–RFLP and confirmed by DNA sequencing. The results showed an association between the G allele of the T309G and Ewing Sarcoma (P = 0.02). Comparing to the TT carriers, the risk of G allele carriers was 3.35 (95 % CI = 1.22–9.21) with P = 0.02. At the genotypic level, an association of the TT genotype with the control group (P = 0.03) was found. Comparing to the TT genotype, the risk of TG and GG was 2.97 (95 % CI = 1.03–8.58) with P = 0.04 and 5.00 (95 % CI = 1.23–20.34) with P = 0.02, respectively. No associations regarding the Arg72Pro SNP were found. Considering that the T309G has been associated with several types of cancer, including sarcomas, our results indicate that this SNP may also be important to Ewing Sarcoma predisposition. |
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