Titre
Heterozygosity of SNP513 in intron 9 of the human calretinin gene (CALB2) is a risk factor for colon cancer.
Type
article
Institution
Externe
Périodique
Auteur(s)
Vonlanthen, S.
Auteure/Auteur
Kawecki, T.J.
Auteure/Auteur
Betticher, D.C.
Auteure/Auteur
Pfefferli, M.
Auteure/Auteur
Schwaller, B.
Auteure/Auteur
Liens vers les personnes
ISSN
0250-7005[print], 0250-7005[linking]
Statut éditorial
Publié
Date de publication
2007
Volume
27
Numéro
6C
Première page
4279
Dernière page/numéro d’article
4288
Peer-reviewed
Oui
Langue
anglais
Résumé
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.
PID Serval
serval:BIB_736B16E22251
PMID
Date de création
2008-03-14T08:19:13.999Z
Date de création dans IRIS
2025-05-21T00:29:51Z