Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/113540
Title: Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins
Author: Abulí, Anna
Fernández-Rozadilla, Ceres
Alonso-Espinaco, Virginia
Muñoz, Jenifer
Gonzalo, Victoria
Bessa i Caserras, Xavier
González, Dolors
Clofent, Juan
Cubiella, Joaquín
Morillas, Juan D.
Rigau, Joaquim
Latorre, Mercedes
Fernández Bañares, Fernando
Peña, Elena
Riestra, Sabino
Payá, Artemio
Jover, Rodrigo
Xicola, Rosa
Llor, Xavier
Carvajal-Carmona, Luis G.
Villanueva, Cristina M.
Moreno Aguado, Víctor
Piqué, J. M. (Piqué Badía)
Carracedo Álvarez, Ángel
Castells Garangou, Antoni
Andreu, Montserrat
Ruiz-Ponte, Clara
Castellví Bel, Sergi
Keywords: Càncer colorectal
Polimorfisme genètic
Estudi de casos
Genètica
Colorectal cancer
Genetic polymorphisms
Case studies
Genetics
Issue Date: 5-Aug-2011
Publisher: BioMed Central
Abstract: Background: Colorectal cancer (CRC) is the second leading cause of cancer death in developed countries. Familial aggregation in CRC is also important outside syndromic forms and, in this case, a polygenic model with several common low-penetrance alleles contributing to CRC genetic predisposition could be hypothesized. Mucins and GALNTs (N-acetylgalactosaminyltransferase) are interesting candidates for CRC genetic susceptibility and have not been previously evaluated. We present results for ten genetic variants linked to CRC risk in previous studies (previously identified category) and 18 selected variants from the mucin gene family in a case-control association study from the Spanish EPICOLON consortium. Methods: CRC cases and matched controls were from EPICOLON, a prospective, multicenter, nationwide Spanish initiative, comprised of two independent stages. Stage 1 corresponded to 515 CRC cases and 515 controls, whereas stage 2 consisted of 901 CRC cases and 909 controls. Also, an independent cohort of 549 CRC cases and 599 controls outside EPICOLON was available for additional replication. Genotyping was performed for ten previously identified SNPs in ADH1C, APC, CCDN1, IL6, IL8, IRS1, MTHFR, PPARG, VDR and ARL11, and 18 selected variants in the mucin gene family. Results: None of the 28 SNPs analyzed in our study was found to be associated with CRC risk. Although four SNPs were significant with a P-value < 0.05 in EPICOLON stage 1 [rs698 in ADH1C (OR = 1.63, 95% CI = 1.06-2.50, P-value = 0.02, recessive), rs1800795 in IL6 (OR = 1.62, 95% CI = 1.10-2.37, P-value = 0.01, recessive), rs3803185 in ARL11 (OR = 1.58, 95% CI = 1.17-2.15, P-value = 0.007, codominant), and rs2102302 in GALNTL2 (OR = 1.20, 95% CI = 1.00-1.44, P-value = 0.04, log-additive 0, 1, 2 alleles], only rs3803185 achieved statistical significance in EPICOLON stage 2 (OR = 1.34, 95% CI = 1.06-1.69, P-value = 0.01, recessive). In the joint analysis for both stages, results were only significant for rs3803185 (OR = 1.12, 95% CI = 1.00-1.25, P-value = 0.04, log-additive 0, 1, 2 alleles) and borderline significant for rs698 and rs2102302. The rs3803185 variant was not significantly associated with CRC risk in an external cohort (MCC-Spain), but it still showed some borderline significance in the pooled analysis of both cohorts (OR = 1.08, 95% CI = 0.98-1.18, P-value = 0.09, log-additive 0, 1, 2 alleles). Conclusions: ARL11, ADH1C, GALNTL2 and IL6 genetic variants may have an effect on CRC risk. Further validation and meta-analyses should be undertaken in larger CRC studies.
Note: Reproducció del document publicat a: https://doi.org/10.1186/1471-2407-11-339
It is part of: BMC Cancer, 2011, vol. 11, p. 339
Related resource: https://doi.org/10.1186/1471-2407-11-339
URI: http://hdl.handle.net/2445/113540
ISSN: 1471-2407
Appears in Collections:Articles publicats en revistes (Medicina)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Files in This Item:
File Description SizeFormat 
635313.pdf328.04 kBAdobe PDFView/Open


This item is licensed under a Creative Commons License Creative Commons