Ontology highlight
ABSTRACT:
SUBMITTER: Pittman AM
PROVIDER: S-EPMC2940760 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Pittman Alan M AM Naranjo Silvia S Jalava Sanni E SE Twiss Philip P Ma Yussanne Y Olver Bianca B Lloyd Amy A Vijayakrishnan Jayaram J Qureshi Mobshra M Broderick Peter P van Wezel Tom T Morreau Hans H Tuupanen Sari S Aaltonen Lauri A LA Alonso M Eva ME Manzanares Miguel M Gavilán Angela A Visakorpi Tapio T Gómez-Skarmeta José Luis JL Houlston Richard S RS
PLoS genetics 20100916 9
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 wit ...[more]