| Autor: |
Häuser, F, Rossmann, H, Laubert-Reh, D, Wild, P S, Zeller, T, Müller, C, Neuwirth, S, Blankenberg, S, Lackner, K J |
| Zdroj: |
Genes and Immunity; December 2015, Vol. 16 Issue: 8 p571-575, 5p |
| Abstrakt: |
Genome-wide association studies have identified and repeatedly confirmed the association of rs3197999 in MST1with inflammatory bowel disease (IBD). However, the underlying pathophysiology remains unclear. rs3197999 is a non-synonymous single-nucleotide polymorphism which modifies the function of macrophage stimulating protein-1 (MST1). We show by haplotyping that rs3197999 is in linkage disequilibrium with rs1050450 in GPX1, with almost complete cosegregation of the minor alleles. As shown by immunoassay, rs3197999 influences the MST-1 level in serum. But also rs1050450 causes an amino acid exchange in glutathione peroxidase 1 (GPx-1) and reduced activity of this antioxidant enzyme. The association of GPx deficiency and IBD in mice was already shown. We propose that GPx-1 is a better candidate than MST1 for the pathophysiologic link between IBD locus 12 and IBD. |
| Databáze: |
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