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Heterozygosity of SNP513 in intron 9 of the human calretinin gene (CALB2) is a risk factor for colon cancer

  • Vonlanthen, Sivia Unit of Anatomy, Department of Medicine, University of Fribourg, Switzerland
  • Kawecki, Tadeusz J. Unit of Ecology and Evolution, Department of Biology, University of Fribourg, Fribourg - Department of Ecology & Evolution, University of Lausanne, Switzerland
  • Betticher, Daniel C. Hospital of the Canton of Fribourg, Switzerland
  • Pfefferli, Martine Unit of Anatomy, Department of Medicine, University of Fribourg, Switzerland
  • Schwaller, Beat Unit of Anatomy, Department of Medicine, University of Fribourg, Switzerland
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    2007
Published in:
  • Anticancer Research. - 2007, vol. 27, no. 6C, p. 4279-4288
English BACKGROUND: The Ca2+-binding protein calretinin (CR), while absent in normal colonocytes, is expressed in the majority of poorly differentiated colon carcinomas, and is hypothesized that mutations in the distal part (from exon 7 to 10) of the CR gene (CALB2) could be responsible for the aberrant CR expression. MATERIALS AND METHODS: Using PCR amplification of genomic DNA and restriction fragment length polymorphism analysis, four single nucleotide polymorphisms (SNPs) were identified in CALB2 intron 9. RESULTS: A significant positive association between the genotype at SNP513 and colon cancer was found: more C/T heterozygotes were found in patients with colon tumors (60%) compared to healthy controls (35%) or patients with lung tumors (38%). Our results indicate that C/T heterozygosity at position 513 is linked to CR expression in colon tumors and colon cancer cell lines, suggesting a link with increased carcinogenesis. CONCLUSION: The SNP513 in human CALB2 may thus be a predictive marker for colon tumors.
Faculty
Faculté des sciences et de médecine
Department
Département de Médecine, Département de Biologie
Language
  • English
Classification
Biological sciences
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Identifiers
  • RERO DOC 10574
Persistent URL
https://folia.unifr.ch/unifr/documents/300728
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