Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

doi:10.1371/journal.pgen.1001126

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Article

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

PLoS genetics - 16 Sept 2010

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 Angela, Visakorpi Tapio, Gómez-Skarmeta José Luis, Houlston Richard S

Abstract excerpt

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...

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PMID: 20862326
DOI: 10.1371/journal.pgen.1001126
PMCID: PMC2940760

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