title: A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22.
abstract: BACKGROUND
  Colorectal cancer (CRC) is the second cause of cancer-related death in the Western world. Much of the CRC genetic risk remains unidentified and may be attributable to a large number of common, low-penetrance genetic variants. Genetic linkage studies in CRC families have reported additional association with regions 9q22-31, 3q21-24, 7q31, 11q, 14q and 22q. There are several plausible candidate genes for CRC susceptibility within the aforementioned linkage regions including PTCH1, XPA and TGFBR1 in 9q22-31, and EPHB1 and MRAS in 3q21-q24.
  
  
  METHODS
  CRC cases and matched controls were from EPICOLON, a prospective, multicentre, nationwide Spanish initiative, composed of two independent phases. Phase 1 corresponded to 515 CRC cases and 515 controls, whereas phase 2 consisted of 901 CRC cases and 909 controls. Genotyping was performed for 172 single-nucleotide polymorphisms (SNPs) in 84 genes located within regions 9q22-31 and 3q21-q24.
  
  
  RESULTS
  None of the 172 SNPs analysed in our study could be formally associated with CRC risk. However, rs1444601 (TOPBP1) and rs13088006 (CDV3) in region 3q22 showed interesting results and may have an effect on CRC risk.
  
  
  CONCLUSIONS
  TOPBP1 and CDV3 genetic variants on region 3q22 may modulate CRC risk. Further validation and meta-analysis should be undertaken in larger CRC cohorts.
authors.affiliation: Department of Gastroenterology, Hospital Clínic, CIBERehd, IDIBAPS, University of Barcelona, Villarroel 170, 08036, Barcelona, Catalonia, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Abulí
authors.forename: C
authors.initials: C
authors.lastname: Fernández-Rozadilla
authors.forename: M D
authors.initials: MD
authors.lastname: Giráldez
authors.forename: J
authors.initials: J
authors.lastname: Muñoz
authors.forename: V
authors.initials: V
authors.lastname: Gonzalo
authors.forename: X
authors.initials: X
authors.lastname: Bessa
authors.forename: L
authors.initials: L
authors.lastname: Bujanda
authors.forename: J M
authors.initials: JM
authors.lastname: Reñé
authors.forename: A
authors.initials: A
authors.lastname: Lanas
authors.forename: A M
authors.initials: AM
authors.lastname: García
authors.forename: J
authors.initials: J
authors.lastname: Saló
authors.forename: L
authors.initials: L
authors.lastname: Argüello
authors.forename: A
authors.initials: A
authors.lastname: Vilella
authors.forename: R
authors.initials: R
authors.lastname: Carreño
authors.forename: R
authors.initials: R
authors.lastname: Jover
authors.forename: R M
authors.initials: RM
authors.lastname: Xicola
authors.forename: X
authors.initials: X
authors.lastname: Llor
authors.forename: L
authors.initials: L
authors.lastname: Carvajal-Carmona
authors.forename: I P M
authors.initials: IP
authors.lastname: Tomlinson
authors.forename: D J
authors.initials: DJ
authors.lastname: Kerr
authors.forename: R S
authors.initials: RS
authors.lastname: Houlston
authors.forename: J M
authors.initials: JM
authors.lastname: Piqué
authors.forename: A
authors.initials: A
authors.lastname: Carracedo
authors.forename: A
authors.initials: A
authors.lastname: Castells
authors.forename: M
authors.initials: M
authors.lastname: Andreu
authors.forename: C
authors.initials: C
authors.lastname: Ruiz-Ponte
authors.forename: S
authors.initials: S
authors.lastname: Castellví-Bel
mesh_terms: D000368:Aged; D015703:Antigens, CD / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D016022:Case-Control Studies; D002893:Chromosomes, Human, Pair 3; D002899:Chromosomes, Human, Pair 9; D015179:Colorectal Neoplasms / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D058851:GPI-Linked Proteins / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D039961:Semaphorins / Q000235:genetics
chemical_list: D015703:Antigens, CD; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D058851:GPI-Linked Proteins; D009687:Nuclear Proteins; C118753:SEMA7A protein, human; D039961:Semaphorins; C110513:TOPBP1 protein, human