Distinction between chronic enteropathy associated with the SLCO2A1 gene and Crohn's disease

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

研究成果: Contribution to journalArticle査読

9 被引用数 (Scopus)

抄録

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 inSLCO2A1, 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. (Gut Liver 2019;13:62-66).

本文言語英語
ページ(範囲)62-66
ページ数5
ジャーナルGut and Liver
13
1
DOI
出版ステータス出版済み - 1 2019

All Science Journal Classification (ASJC) codes

  • Hepatology
  • Gastroenterology

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