Single Nucleotide Polymorphisms of the MEFV Gene E148Q Are Highly Associated With Disease Phenotype in Crohn's Disease.
Satoshi YamadaYusuke HonzawaShuji YamamotoMinoru MatsuuraHiroki KitamotoMakoto OkabeNobuyuki KakiuchiTakahiko ToyonagaTaku KobayashiToshifumi HibiHiroshi SenoHiroshi NakasePublished in: Inflammatory bowel diseases (2023)
MEFV gene SNPs, including E148Q, modify the behavior of CD. IL-1β and IL-18 are produced through enhanced caspase-1 activity in monocytes of CD patients with E148Q. IL-1β promotes gene expression of fibrosis-related genes by cooperating with IL-17A in myofibroblasts. Therefore, E148Q might be a disease-modifying gene associated with the fibrostenosis phenotype in CD patients.
Keyphrases
- genome wide
- gene expression
- copy number
- end stage renal disease
- dna methylation
- chronic kidney disease
- ejection fraction
- genome wide identification
- newly diagnosed
- cell death
- prognostic factors
- dendritic cells
- peritoneal dialysis
- oxidative stress
- patient reported outcomes
- immune response
- signaling pathway
- peripheral blood
- transcription factor
- endoplasmic reticulum stress