The TGFBR1*6A allele is not associated with susceptibility to colorectal cancer in a Spanish population: a case-control study
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Título: | The TGFBR1*6A allele is not associated with susceptibility to colorectal cancer in a Spanish population: a case-control study |
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Autor/es: | Castillejo, Adela | Mata Balaguer, Trinidad | Montenegro, Paola | Ochoa, Enrique | Lázaro, Rafael | Martínez-Cantó, Ana | Castillejo, María Isabel | Guarinos, Carla | Barberá, Víctor Manuel | Guillén-Ponce, Carmen | Carrato, Alfredo | Soto, José Luis |
Grupo/s de investigación o GITE: | Transducción de Señales en Bacterias |
Centro, Departamento o Servicio: | Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología |
Palabras clave: | TGFBR1*6A | Susceptibility | Colorectal cancer |
Área/s de conocimiento: | Genética |
Fecha de creación: | 2009 |
Fecha de publicación: | 18-jun-2009 |
Editor: | BioMed Central |
Cita bibliográfica: | CASTILLEJO, Adela, et al. “The TGFBR1*6A allele is not associated with susceptibility to colorectal cancer in a Spanish population: a case-control study”. BMC Cancer. 2009, 9:193. ISSN 1471-2407, 7 pp. |
Resumen: | Background: TGF-β receptor type I is a mediator of growth inhibitory signals. TGFBR1*6A (rs11466445) is a common polymorphic variant of the TGF-β receptor I gene and has been associated with tumour susceptibility. Nevertheless, the role of this polymorphism as a risk factor for colorectal cancer is controversial. The aim of this study was to assess the association between TGFBR1*6A and colorectal cancer, age, sex, tumour location and tumour stage in a Spanish population. Methods: The case-control study involved 800 Spanish subjects: 400 sporadic colorectal cancer patients and 400 age-, sex-, and ethnic-matched controls. The odds ratio (OR) and 95% confidence interval (95% CI) for the TGFBR1*6A polymorphism were calculated using unconditional logistic regression adjusted for age and sex. Analysis of somatic mutations at the GCG repeat of TGFBR1 exon 1 and germline allele-specific expression were also conducted to obtain further information on the contribution of the TGFBR1*6A allele to CRC susceptibility. Results: There was no statistically significant association between the TGFBR1*6A allele and CRC (p > 0.05). The OR was 1.147 (95% CI: 0.799–1.647) for carriers of the TGFBR1*6A allele and 0.878 (95% CI: 0.306–2.520) for homozygous TGFBR1*6A individuals compared with the reference. The frequency of the polymorphism was not affected by age, sex or tumour stage. The TGFBR1*6A allele was more prevalent among colon tumour patients than among rectal tumour patients. Tumour somatic mutations were found in only two of 69 cases (2.9%). Both cases involved a GCG deletion that changed genotype 9A/9A in normal DNA to genotype 9A/8A. Interestingly, these two tumours were positive for microsatellite instability, suggesting that these mutations originated because of a deficient DNA mismatch repair system. Allele-specific expression of the 9A allele was detected in seven of the 14 heterozygous 9A/6A tumour cases. This could have been caused by linkage disequilibrium of the TGFBR1*6A allele with mutations that cause allele-specific expression, as was recently suggested. Conclusion: Our results suggest that the TGFBR1*6A allele does not confer an increased risk of colorectal cancer in the Spanish population. |
Patrocinador/es: | The research was supported in part by grants from the Generalitat Valenciana in Spain (AP106/06) and the Biomedical Research Foundation of the Hospital of Elche (FIBElx-02/2007). T.M-B was a recipient of a fellowship from the Spanish Society of Medical Oncology. |
URI: | http://hdl.handle.net/10045/20085 |
ISSN: | 1471-2407 |
DOI: | 10.1186/1471-2407-9-193 |
Idioma: | eng |
Tipo: | info:eu-repo/semantics/article |
Derechos: | This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
Revisión científica: | si |
Versión del editor: | http://dx.doi.org/10.1186/1471-2407-9-193 |
Aparece en las colecciones: | INV - TSB - Artículos de Revistas INV - GIDBT - Artículos de Revistas |
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