title: The Int7G24A variant of transforming growth factor-beta receptor type I is a risk factor for colorectal cancer in the male Spanish population: a case-control study.
abstract: BACKGROUND
  The Int7G24A variant of transforming growth factor-beta receptor type I (TGFBR1) has been shown to increase the risk for kidney, ovarian, bladder, lung and breast cancers. Its role in colorectal cancer (CRC) has not been established. The aims of this study were to assess the association of TGFBR1*Int7G24A variant with CRC occurrence, patient age, gender, tumour location and stage.
  
  
  METHODS
  We performed a case-control study with 504 cases of sporadic CRC; and 504 non-cancerous age, gender and ethnically matched controls. Genotyping analysis was performed using allelic discrimination assay by real time PCR.
  
  
  RESULTS
  The Int7G24A variant was associated with increased CRC incidence in an additive model of inheritance (P for trend = 0.005). No significant differences were found between Int7G24A genotypes and tumour location or stage. Interestingly, the association of the Int7G24A variant with CRC risk was significant in men (odds ratio 4.10 with 95% confidence intervals 1.41-11.85 for homozygous individuals; P for trend = 0.00023), but not in women. We also observed an increase in susceptibility to CRC for individuals aged less than 70 years.
  
  
  CONCLUSIONS
  Our data suggest that the Int7G24A variant represents a risk factor for CRC in the male Spanish population.
authors.affiliation: Molecular Oncology Group, Elche University Hospital, Camino Almazara 11, 03203 Elche, Spain. acastillejo@umh.es
authors.forename: Adela
authors.initials: A
authors.lastname: Castillejo
authors.forename: Trinidad
authors.initials: T
authors.lastname: Mata-Balaguer
authors.forename: Carla
authors.initials: C
authors.lastname: Guarinos
authors.forename: María-Isabel
authors.initials: MI
authors.lastname: Castillejo
authors.forename: Ana
authors.initials: A
authors.lastname: Martínez-Cantó
authors.forename: Víctor-Manuel
authors.initials: VM
authors.lastname: Barberá
authors.forename: Paola
authors.initials: P
authors.lastname: Montenegro
authors.forename: Enrique
authors.initials: E
authors.lastname: Ochoa
authors.forename: Rafael
authors.initials: R
authors.lastname: Lázaro
authors.forename: Carmen
authors.initials: C
authors.lastname: Guillén-Ponce
authors.forename: Alfredo
authors.initials: A
authors.lastname: Carrato
authors.forename: José-Luís
authors.initials: JL
authors.lastname: Soto
mesh_terms: D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077293:Receptor, Transforming Growth Factor-beta Type I; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012307:Risk Factors; D012737:Sex Factors; D013030:Spain
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; C000625841:TGFBR1 protein, human