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Identification of a protective haplogenotype within CAPN10 gene influencing colorectal cancer susceptibility
Author(s) -
Frances Carmen P,
Conde Manuel C,
Saez Maria E,
Diez Servando F,
Rey Concha M,
RamírezArmengol Juan A,
Pascual Manuel H,
GonzalezPerez Antonio,
Torres Pablo P,
Real Luis M,
SerranoRios Manuel,
López José L G,
Ruiz Agustin,
Royo Jose L
Publication year - 2007
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1111/j.1440-1746.2007.04843.x
Subject(s) - colorectal cancer , medicine , allele , type 2 diabetes mellitus , pathogenesis , genetic predisposition , locus (genetics) , incidence (geometry) , oncology , gene , cancer , gastroenterology , diabetes mellitus , disease , genetics , endocrinology , biology , physics , optics
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.