Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study.

Autor: Barbara Pardini, Paolo Verderio, Sara Pizzamiglio, Carmela Nici, Maria Valeria Maiorana, Alessio Naccarati, Ludmila Vodickova, Veronika Vymetalkova, Silvia Veneroni, Maria Grazia Daidone, Fernando Ravagnani, Tiziana Bianchi, Luis Bujanda, Angel Carracedo, Antoni Castells, Clara Ruiz-Ponte, Hans Morreau, Kimberley Howarth, Angela Jones, Sergi Castellví-Bel, Li Li, Ian Tomlinson, Tom Van Wezel, Pavel Vodicka, Paolo Radice, Paolo Peterlongo, EPICOLON Consortium
Jazyk: angličtina
Rok vydání: 2014
Předmět:
Zdroj: PLoS ONE, Vol 9, Iss 1, p e85538 (2014)
Druh dokumentu: article
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0085538
Popis: The common -652 6N del variant in the CASP8 promoter (rs3834129) has been described as a putative low-penetrance risk factor for different cancer types. In particular, some studies suggested that the deleted allele (del) was inversely associated with CRC risk while other analyses failed to confirm this. Hence, to better understand the role of this variant in the risk of developing CRC, we performed a multi-centric case-control study. In the study, the variant -652 6N del was genotyped in a total of 6,733 CRC cases and 7,576 controls recruited by six different centers located in Spain, Italy, USA, England, Czech Republic and the Netherlands collaborating to the international consortium COGENT (COlorectal cancer GENeTics). Our analysis indicated that rs3834129 was not associated with CRC risk in the full data set. However, the del allele was under-represented in one set of cases with a family history of CRC (per allele model OR = 0.79, 95% CI = 0.69-0.90) suggesting this allele might be a protective factor versus familial CRC. Since this multi-centric case-control study was performed on a very large sample size, it provided robust clarification of the effect of rs3834129 on the risk of developing CRC in Caucasians.
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