Division of Gastroenterology, Department of Internal Medicine, Iwate Medical University, Morioka, Japan.
Division of Molecular Diagnostic Pathology, Department of Pathology, Iwate Medical University, Morioka, Japan.
Gut Liver. 2019 Jan 15;13(1):62-66. doi: 10.5009/gnl18261.
BACKGROUND/AIMS: We recently identified recessive mutations in the solute carrier organic anion transporter family member 2A1 gene () as causative variants of chronic nonspecific multiple ulcers of the small intestine (chronic enteropathy associated with , 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).
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.
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 , 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.
Immunohistochemical staining for SLCO2A1 in gastroduodenal tissues obtained by endoscopic biopsy is considered useful for the distinction of CEAS from CD.
背景/目的：我们最近发现溶质载体有机阴离子转运家族成员 2A1 基因（）中的隐性突变是慢性非特异性小肠多发性溃疡（与慢性肠炎相关的 ，CEAS）的致病变异体。本研究旨在研究 SLCO2A1 蛋白在 CEAS 和克罗恩病（CD）患者的胃十二指肠中的表达。
使用多克隆抗体 HPA013742 对 4 例 CEAS 和 29 例 CD 患者内镜活检获得的胃十二指肠组织进行 SLCO2A1 免疫组织化学染色。
在 4 例 CEAS 患者中有 1 例（25%）和 29 例 CD 患者中有 29 例（100%）观察到 SLCO2A1 的表达（p<0.001）。无 SLCO2A1 表达的 3 例 CEAS 患者均存在杂合剪接位点突变，c.1461+1G>C（外显子 7）或 c.940+1G>A（外显子 10）。另一位 SLCO2A1 表达阳性的 CEAS 患者有复合杂合 c.664G>A 和 c.1807C>T 突变。
内镜活检获得的胃十二指肠组织中 SLCO2A1 的免疫组织化学染色被认为有助于区分 CEAS 和 CD。
