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Title: No association between germline allele-specific expression of TGFBR1 and colorectal cancer risk in Caucasian and Ashkenazi populations
Author: Seguí Gracia, Nuria
Stevens, Kristen N.
Guinó, Elisabet
Rozek, Laura S.
Moreno Aguado, Víctor
Capellá, G. (Gabriel)
Gruber, Stephen B.
Valle Velasco, Laura
Keywords: Càncer colorectal
Avaluació del risc per la salut
Factors de creixement
Colorectal cancer
Health risk assessment
Growth factors
Issue Date: 15-Feb-2011
Publisher: Cancer Research UK
Abstract: Background: germline allele-specific expression (ASE) of the TGFBR1 gene has been reported as a strong risk factor for colorectal cancer (CRC) with an odds ratio close to 9. Considering the potential implications of the finding, we undertook the task of validating the initial results in this study. Methods: allele-specific expression was measured using the highly quantitative and robust technique of pyrosequencing. Individuals from two different populations were studied, one Caucasian-dominated and the other of Ashkenazi Jewish descent, with different sources of non-tumoral genetic material in each. Results: our results showed no statistically significant differences in the degree of ASE between CRC patients and controls, considering ASE as either a quantitative or a binary trait. Using defined cutoff values to categorise ASE, 1.0% of blood lymphocytes from informative Israeli cases (total n=96) were ASE positive (median 1.00; range 0.76-1.31) and 2.2% of informative matched controls (total n=90) were ASE positive (median 1.00; range 0.76-1.87). Likewise, normal mucosae from Spanish patients (median 1.03; range: 0.68-1.43; n=75) did not show significant differences in the degree of ASE when compared with the Israeli patients or controls. Conclusions: taken together, these results suggest that ASE of TGFBR1 does not confer an increased risk of CRC.
Note: Versió postprint del document publicat a:
It is part of: British Journal of Cancer, 2011, vol. 104, num. 4, p. 735-740
Related resource:
ISSN: 0007-0920
Appears in Collections:Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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