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. 2019 Jan 15;13(1):62-66.
doi: 10.5009/gnl18261.

Distinction between Chronic Enteropathy Associated with the SLCO2A1 Gene and Crohn's Disease

Shunichi Yanai  1 , Satoko Yamaguchi  1 , Shotaro Nakamura  1 , Keisuke Kawasaki  1 , Yosuke Toya  1 , Noriyuki Yamada  2 , Makoto Eizuka  2 , Noriyuki Uesugi  2 , Junji Umeno  3 , Motohiro Esaki  4 , Eiko Okimoto  5 , Shunji Ishihara  5 , Tamotsu Sugai  2 , Takayuki Matsumoto  1
Affiliations

Distinction between Chronic Enteropathy Associated with the SLCO2A1 Gene and Crohn's Disease

Shunichi Yanai et al. Gut Liver. .

Abstract

Background/aims: We recently identified recessive mutations in the solute carrier organic anion transporter family member 2A1 gene (SLCO2A1) as causative variants of chronic nonspecific multiple ulcers of the small intestine (chronic enteropathy associated with SLCO2A1, CEAS). The aim of this study was to investigate the gastroduodenal expression of the SLCO2A1 protein in patients with CEAS and Crohn's disease (CD).

Methods: Immunohistochemical staining for SLCO2A1 was performed with a polyclonal antibody, HPA013742, on gastroduodenal tissues obtained by endoscopic biopsy from four patients with CEAS and 29 patients with CD.

Results: The expression of SLCO2A1 was observed in one of four patients (25%) with CEAS and in all 29 patients (100%) with CD (p<0.001). The three patients with CEAS without SLCO2A1 expression had a homozygous splice-site mutation in SLCO2A1, c.1461+1G>C (exon 7) or c.940+1G>A (exon 10). The remaining one CEAS patient with positive expression of SLCO2A1 had compound heterozygous c.664G>A and c.1807C>T mutations.

Conclusions: Immunohistochemical staining for SLCO2A1 in gastroduodenal tissues obtained by endoscopic biopsy is considered useful for the distinction of CEAS from CD.

Keywords: Chronic enteropathy associated with SLCO2A1 gene; Crohn disease; Immunohistochemistry; SLCO2A1.

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Conflict of interest statement

CONFLICTS OF INTEREST

T.M. has received grant support from AbbVie, Japan. The other authors declare that they have no conflicting interests.

Figures

Fig. 1
Fig. 1
Photomicrographs of the duodenal tissue obtained by endoscopic biopsy from a patient with Crohn’s disease. (A) Low-power view showing the duodenal mucosa and submucosa with a mild chronic inflammatory infiltrate (H&E, ×40). (B) Mid-power view showing several capillary vessels in the deep mucosa and superficial submucosa (H&E, ×200). (C) CD31 immunostaining highlights the vascular endothelial cells of the capillary vessels (arrow) in the mucosa and submucosa (×200). (D) SLCO2A1 immunostaining. Expression of the SLCO2A1 protein can be observed in the vascular endothelial cells (arrow) in the duodenal mucosa and submucosa (×200).
Fig. 2
Fig. 2
Photomicrographs of the duodenal tissue obtained by endoscopic biopsy from a patient with chronic enteropathy associated with SLCO2A1 (CEAS). (A) Low-power view showing the duodenal mucosa with a mild chronic inflammatory infiltrate (H&E, ×40). (B) Mid-power view showing several capillary vessels in the deep portion of the mucosa, (H&E, ×200). (C) CD31 immunostaining highlights the vascular endothelial cells of the capillary vessels in the mucosa (arrows) (×200). (D) SLCO2A1 immunostaining. No SLCO2A1 protein expression can be observed in the vascular endothelial cells (arrows) in the duodenal mucosa (×200).
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