Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea.

Rune R TronstadTatiana PolushinaHans-Richard BrattbakkChristine StansbergHilde Løland von VolkmannKurt HanevikEva EllinghausSilje Fjellgård JørgensenKari Merete ErslandKhanh Do-Cong Pham Odd Helge GiljaNils HovdenakTrygve HauskenMorten H VatnAndre FrankePer Morten KnappskogStephanie Le HellardTom Hemming KarlsenTorunn Fiskerstrand

Published in: Scandinavian journal of gastroenterology (2018)

Our results support a role of guanylate cyclase C signaling and disturbed electrolyte homeostasis in development of IBD. Furthermore, downregulation of metallothioneins in the ileal mucosa of FGDS patients may contribute to IBD development, possibly alongside effects from NOD2 risk variants.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
copy number
prognostic factors
transcription factor
cell proliferation
peritoneal dialysis
signaling pathway
early onset
genome wide
innate immune