What are the roles of the genes BSN, MST1, NKX2-3, and PTPN2 in the etiology of Crohn disease?

Updated: Jul 26, 2019
  • Author: Leyla J Ghazi, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Answer

A large genomic study of multiple diseases confirmed many of the findings found in earlier studies and identified several additional loci of interest for Crohn disease. [23, 24] A locus at 3p21 is located within the BSN gene, which encodes a brain-specific scaffold protein involved in neurotransmitter release. However, the MST1 gene is located nearby and encodes a macrophage stimulation gene, and the authors felt that this represented a more plausible explanation for the association. [24]

A locus at 10q24.2 is located near the NKX2-3 gene, which is a homeodomain-containing transcription factor.

Disruption of the homologous gene in a murine model resulted in defective development of the intestine. [25] The investigators hypothesized that changes to expression of this gene could alter the migration of lymphocytes in the intestine and change its inflammatory response. The last locus discussed in this model is immediately upstream of the PTPN2 on chromosome 18p11 and encodes a T cell protein tyrosine phosphatase, which is a negative regulator of inflammation. [25]


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