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Open Access item Allelic Variation at the 8q23.3 Colorectal Cancer Risk Locus Functions as a Cis-Acting Regulator of EIF3H

Authors:Pittman, Alan M.
Naranjo, Silvia
Jalava, Sanni E.
Twiss, Philip
Ma, Yussanne
Olver, Bianca
Lloyd, Amy
Vijayakrishnan, Jayaram
Qureshi, Mobshra
Broderick, Peter
Van Wezel, Tom
Morreau, Hans
Tuupanen, Sari
Aaltonen, Lauri A.
Alonso, M. Eva
Manzanares, Miguel
Gavilán, Ángela
Visakorpi, Tapio
Gómez-Skarmeta, José Luis
Houlston, Richard S.
Issue Date:Sep-2010
Publisher:Public Library of Science
Citation:PLoS Genetics 6(9): e1001126 (2010)
Abstract:Common genetic variation at human 8q23.3 is significantly associated with colorectal cancer (CRC) risk. To elucidate the basis of this association we compared the frequency of common variants at 8q23.3 in 1,964 CRC cases and 2,081 healthy controls. Reporter gene studies showed that the single nucleotide polymorphism rs16888589 acts as an allele-specific transcriptional repressor. Chromosome conformation capture (3C) analysis demonstrated that the genomic region harboring rs16888589 interacts with the promoter of gene for eukaryotic translation initiation factor 3, subunit H (EIF3H). We show that increased expression of EIF3H gene increases CRC growth and invasiveness thereby providing a biological mechanism for the 8q23.3 association. These data provide evidence for a functional basis for the non-coding risk variant rs16888589 at 8q23.3 and provides novel insight into the etiological basis of CRC.
Description:9 páginas, 5 figuras.
Publisher version (URL):http://dx.doi.org/10.1371/journal.pgen.1001126
Appears in Collections:(CABD) Artículos

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