The IL-10R1 S138G loss-of-function allele and ulcerative colitis
  • Metaadatok
Tartalom: http://dx.doi.org/10.1038/gene.2008.72
Archívum: MTA Könyvtár
Gyűjtemény: Status = Published

Type = Article
Cím:
The IL-10R1 S138G loss-of-function allele and ulcerative colitis
Létrehozó:
Grundtner, P.
Gruber, S.
Murray, S. S.
Vermeire, S.
Rutgeerts, P.
Decker, T.
Lakatos, Péter László
Gasche, C.
Kiadó:
Nature Publishing Group
Dátum:
2009
Téma:
RC Internal medicine / belgyógyászat
Tartalmi leírás:
Genetic predisposition is a risk factor for the development of inflammatory bowel diseases (IBDs). Disruption of the interleukin
(IL)-10 pathway in mice causes intestinal inflammation similar to human IBD. Two common non-synonymous IL-10R1 variants,
S138G and G330R, were cloned and expressed in HeLa and Ba/F3. A reduction in IL-10-induced STAT1 and STAT3 activation
was seen for IL-10R1-S138G (but not IL-10R1-G330R) by phosphospecific western blotting in both cell types. When analyzing
52 world populations for the presence of IL-10R1 variants, a strong dissimilarity was found between major geographical
regions. In addition, when 182 IBD?parent trios were genotyped for both variants, a reduced transmission of haplotype -7
(carrying the S138G variant allele) to offspring with ulcerative colitis (UC) was observed. This UC-protective effect of S138G
was confirmed in a Hungarian cohort (nź185, allele frequency 11.6 versus 17.5%; Pź0.017) but not in an independent
Belgian cohort (nź666, allele frequency 15.9 versus 15.5%; Pź0.8). In conclusion, the IL-10R1 S138G variant is a loss-offunction
allele for IL-10-induced STAT1 and STAT3 activation but does not protect from UC susceptibility.
Típus:
Article
PeerReviewed
Formátum:
text
Azonosító:
Grundtner, P. and Gruber, S. and Murray, S. S. and Vermeire, S. and Rutgeerts, P. and Decker, T. and Lakatos, Péter László and Gasche, C. (2009) The IL-10R1 S138G loss-of-function allele and ulcerative colitis. Genes and Immunity, 10 (1). pp. 84-92. ISSN 1466-4879
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