Identification of a protective haplogenotype within CAPN10 gene influencing colorectal cancer susceptibility

Carmen P. Frances, Manuel C. Conde, Maria E. Saez, Servando F. Diez, Concha M. Rey, Juan A. Ramírez-Armengol, Manuel H. Pascual, Antonio Gonzalez-Perez, Pablo P. Torres, Luis M. Real, Manuel Serrano-Rios, José L.G. López, Agustin Ruiz, Jose L. Royo

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Background and Aim: 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. Method: 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). Conclusion: 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.

Original languageEnglish (US)
Pages (from-to)2298-2302
Number of pages5
JournalJournal of Gastroenterology and Hepatology (Australia)
Volume22
Issue number12
DOIs
StatePublished - Dec 2007
Externally publishedYes

Keywords

  • CAPN10
  • Colorectal cancer
  • Diabetes
  • Pyrosequencing
  • UCSNP-44

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology

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