| Literature DB >> 26355565 |
F Häuser1, H Rossmann1, D Laubert-Reh2, P S Wild2,3,4, T Zeller5,6, C Müller5, S Neuwirth1, S Blankenberg5,6, K J Lackner1.
Abstract
Genome-wide association studies have identified and repeatedly confirmed the association of rs3197999 in MST1 with 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.Entities:
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Year: 2015 PMID： 26355565 DOI： 10.1038/gene.2015.35
Source DB: PubMed Journal: Genes Immun ISSN： 1466-4879 Impact factor: 2.676