title: Identification of a protective haplogenotype within CAPN10 gene influencing colorectal cancer susceptibility.
abstract: OBJECTIVE
  Colorectal cancer (CRC) is one of the most prevalent types of cancer affecting both men and women in developed countries. Clinical and molecular evidence suggests that there are multiple biochemical pathways involved in its susceptibility, pathogenesis and prognosis. Several studies have reported a significant association between the incidence of CRC and type 2 diabetes mellitus (T2DM). However, genes associated with both conditions are rare.
  
  
  METHODS
  We have analyzed the CAPN10 gene, a T2DM locus, using UCSNP-43, -44, -19, and -63 markers, looking for differences between 371 CRC patients and 605 unrelated controls of Spanish origin.
  
  
  RESULTS
  We found that UCSNP-44 allele C is swept out from cases (OR = 0.16, P = 0.005). Moreover, the frequency of 2111/2111 haplogenotype is also statistically lower than expected in CRC patients (P = 0.006).
  
  
  CONCLUSIONS
  Taken together, our results indicate a recessive model for the effect of CAPN10 variant UCSNP-44 influencing the risk of CRC and suggest a novel genetic link between T2DM and colon carcinoma.
authors.affiliation: Endoscopy Central Service, San Carlos Clinical Hospital, Madrid, Spain.
authors.forename: Carmen P
authors.initials: CP
authors.lastname: Frances
authors.forename: Manuel C
authors.initials: MC
authors.lastname: Conde
authors.forename: Maria E
authors.initials: ME
authors.lastname: Saez
authors.forename: Servando F
authors.initials: SF
authors.lastname: Diez
authors.forename: Concha M
authors.initials: CM
authors.lastname: Rey
authors.forename: Juan A
authors.initials: JA
authors.lastname: Ramírez-Armengol
authors.forename: Manuel H
authors.initials: MH
authors.lastname: Pascual
authors.forename: Antonio
authors.initials: A
authors.lastname: Gonzalez-Perez
authors.forename: Pablo P
authors.initials: PP
authors.lastname: Torres
authors.forename: Luis M
authors.initials: LM
authors.lastname: Real
authors.forename: Manuel
authors.initials: M
authors.lastname: Serrano-Rios
authors.forename: José L G
authors.initials: JL
authors.lastname: López
authors.forename: Agustin
authors.initials: A
authors.lastname: Ruiz
authors.forename: Jose L
authors.initials: JL
authors.lastname: Royo
mesh_terms: D002154:Calpain / Q000235:genetics*; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male
chemical_list: D005819:Genetic Markers; D002154:Calpain; C415197:calpain 10