Publication Date:
2012-06-16
Description:
We analyzed the association of a single nucleotide polymorphism (SNP) in the gene encoding the IL-12 subunit p40 (IL12B, rs3212227, A〉C) with breast cancer. The SNPs allelic and genotypic frequencies were compared between patients (n=191) and healthy (n=194) women in a case-control study from Croatia. The major allele (A) was associated with susceptibility to breast cancer (p=0.003; OR=1.67; 95%CI: 1.17-2.38). Likewise, the minor allele (C) was significantly correlated with protection (p=0.003; OR=0.60; 95%CI: 0.42-0.86). At the genotype level, AA homozygosity was significantly associated with predisposition to disease (p=0.013; OR=1.68, 95%CI: 1.09-2.59), whereas the minor allele homozygosity (CC) was correlated with protection to disease (p=0.020, OR=0.28, 95%CI: 0.09-0.91). The heterozygous genotype showed no significant correlation with disease. The product of the IL12B gene (IL-12 p40) can either form a homodimeric cytokine or be part of two pro-inflammatory (IL-12 and IL-23) cytokines. It is presently unclear whether the major allele is associated with higher or lower protein levels of IL-12 p40 and IL-12 p70, which are critical in inflammation and adaptive immune responses. However, since the A allele is high producer of IL12B (p40) mRNA, these results might imply that higher levels of IL-12 p40 (either as homodimers or joined with one or both of the other two subunits) predispose to breast cancer.
Print ISSN:
0300-9475
Electronic ISSN:
1365-3083
Topics:
Medicine
