Article: article from journal or magazin.
Heterozygosity of SNP513 in intron 9 of the human calretinin gene (CALB2) is a risk factor for colon cancer.
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.
Aged, Base Sequence, Blotting, Western, Calcium-Binding Protein, Vitamin D-Dependent/genetics, Colonic Neoplasms/genetics, Colonic Neoplasms/pathology, Genetic Predisposition to Disease, Heterozygote, Humans, Introns, Middle Aged, Molecular Sequence Data, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Risk Factors, Tumor Markers, Biological/genetics
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