tgfbr1 intralocus epistatic interaction as a risk factor for colorectal cancertgfbr1 intralocus上位交互作为结直肠癌的风险因素.pdfVIP

TGFBR1 Intralocus Epistatic Interaction as a Risk Factor for Colorectal Cancer 1 1 1 1 Ana Martinez-Canto , Adela Castillejo , Trinidad Mata-Balaguer , Maria-Isabel Castillejo , Eva 1 1 1 1 1 Hernandez-Illan , Esperanza Irles , Victor Manuel Barbera , Cecilia Egoavil , Carla Guarinos , Cristina 2 3 4 1 5 5 Alenda , Enrique Ochoa , Rafael Lazaro , Silvia Fajardo , Javier Lacueva , Rafael Calpena , Jose Luis Soto1* 1 Molecular Genetics Laboratory, Elche University Hospital, Elche, Spain, 2 Department of Pathology, Alicante University Hospital, Alicante, Spain, 3 Molecular Biopathology, Castellon Provincial Hospital, Castellon, Spain, 4 Department of Pathology, La Plana Hospital, Villareal, Spain, 5 Department of Surgery, Elche University Hospital, Elche, Spain Abstract In colorectal cancer (CRC), an inherited susceptibility risk affects about 35% of patients, whereas high-penetrance germline mutations account for ,6% of cases. A considerable proportion of sporadic tumors could be explained by the coinheritance of multiple low-penetrance variants, some of which are common. We assessed the susceptibility to CRC conferred by genetic variants at the TGFBR1 locus. We analyzed 14 polymorphisms and the allele-specific expression (ASE) of TGFBR1 in 1025 individuals from the Spanish population. A case-control study was undertaken with 504 controls and 521 patients with sporadic CRC. Fourteen polymorphisms located at th