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Inflammatory bowel disease (IBD) locus 12: is glutathione peroxidase-1 (GPX1) the relevant gene?

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Inflammatory bowel disease (IBD) locus 12: is glutathione peroxidase-1 (GPX1) the relevant gene? / Häuser, F; Rossmann, H; Laubert-Reh, D; Wild, P S; Zeller, T; Müller, C; Neuwirth, S; Blankenberg, S; Lackner, K J.

In: GENES IMMUN, Vol. 16, No. 8, 12.2015, p. 571-575.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Häuser, F, Rossmann, H, Laubert-Reh, D, Wild, PS, Zeller, T, Müller, C, Neuwirth, S, Blankenberg, S & Lackner, KJ 2015, 'Inflammatory bowel disease (IBD) locus 12: is glutathione peroxidase-1 (GPX1) the relevant gene?', GENES IMMUN, vol. 16, no. 8, pp. 571-575. https://doi.org/10.1038/gene.2015.35

APA

Häuser, F., Rossmann, H., Laubert-Reh, D., Wild, P. S., Zeller, T., Müller, C., Neuwirth, S., Blankenberg, S., & Lackner, K. J. (2015). Inflammatory bowel disease (IBD) locus 12: is glutathione peroxidase-1 (GPX1) the relevant gene? GENES IMMUN, 16(8), 571-575. https://doi.org/10.1038/gene.2015.35

Vancouver

Häuser F, Rossmann H, Laubert-Reh D, Wild PS, Zeller T, Müller C et al. Inflammatory bowel disease (IBD) locus 12: is glutathione peroxidase-1 (GPX1) the relevant gene? GENES IMMUN. 2015 Dec;16(8):571-575. https://doi.org/10.1038/gene.2015.35

Bibtex

@article{53b482687e1b49fea995c4f77710d0b6,
title = "Inflammatory bowel disease (IBD) locus 12: is glutathione peroxidase-1 (GPX1) the relevant gene?",
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. ",
keywords = "Adult, Aged, Animals, Female, Glutathione Peroxidase/genetics, Hepatocyte Growth Factor/genetics, Humans, Inflammatory Bowel Diseases/enzymology, Linkage Disequilibrium, Male, Mice, Middle Aged, Polymorphism, Single Nucleotide, Proto-Oncogene Proteins/genetics",
author = "F H{\"a}user and H Rossmann and D Laubert-Reh and Wild, {P S} and T Zeller and C M{\"u}ller and S Neuwirth and S Blankenberg and Lackner, {K J}",
year = "2015",
month = dec,
doi = "10.1038/gene.2015.35",
language = "English",
volume = "16",
pages = "571--575",
journal = "GENES IMMUN",
issn = "1466-4879",
publisher = "NATURE PUBLISHING GROUP",
number = "8",

}

RIS

TY - JOUR

T1 - Inflammatory bowel disease (IBD) locus 12: is glutathione peroxidase-1 (GPX1) the relevant gene?

AU - Häuser, F

AU - Rossmann, H

AU - Laubert-Reh, D

AU - Wild, P S

AU - Zeller, T

AU - Müller, C

AU - Neuwirth, S

AU - Blankenberg, S

AU - Lackner, K J

PY - 2015/12

Y1 - 2015/12

N2 - 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.

AB - 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.

KW - Adult

KW - Aged

KW - Animals

KW - Female

KW - Glutathione Peroxidase/genetics

KW - Hepatocyte Growth Factor/genetics

KW - Humans

KW - Inflammatory Bowel Diseases/enzymology

KW - Linkage Disequilibrium

KW - Male

KW - Mice

KW - Middle Aged

KW - Polymorphism, Single Nucleotide

KW - Proto-Oncogene Proteins/genetics

U2 - 10.1038/gene.2015.35

DO - 10.1038/gene.2015.35

M3 - SCORING: Journal article

C2 - 26355565

VL - 16

SP - 571

EP - 575

JO - GENES IMMUN

JF - GENES IMMUN

SN - 1466-4879

IS - 8

ER -