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- Title
PTPN2 is associated with Crohn's disease and its expression is regulated by NKX2-3.
- Authors
Yu, Wei; Hegarty, John P; Berg, Arthur; Kelly, Ashley A; Wang, Yunhua; Poritz, Lisa S; Franke, Andre; Schreiber, Stefan; Koltun, Walter A; Lin, Zhenwu
- Abstract
PTPN2 is a risk gene for Crohn's disease (CD). We investigated whether PTPN2 genetic variants (rs2542151 and rs2542152) were associated with CD in a familial IBD registry. Both rs2542151 and rs2542152 are associated with CD, but not ulcerative colitis (UC). mRNA expression levels of PTPN2 were significantly increased in intestinal tissues (p=0.0493), and nearly significantly increased in B cells (p=0.0889) from CD patients, but not significantly altered in UC. cDNA microarray results found that PTPN2 was down-regulated by NKX2-3 knockdown in human cells. We confirmed this observation by RT-PCR analyses in NKX2-3 knockdown in B cells from IBD patients and human intestinal microvascular endothelial cells (HIMEC). In addition, we found that mRNA expression of another IBD-associated gene, NKX2-3, was increased in intestinal tissues and B cells from CD patients, but not significantly increased in UC patients. A positive correlation was observed between mRNA expression of PTPN2 and NKX2-3 in B cells and in intestinal tissues from both CD and UC patients. These results suggest that PTPN2 may have an important role in CD pathogenesis and may represent a potential diagnostic and therapeutic target for IBD.
- Publication
Disease markers, 2012, Vol 32, Issue 2, p83
- ISSN
1875-8630
- Publication type
Journal Article
- DOI
10.3233/DMA-2011-0867