Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.
Department of Gastroenterology, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.
Dig Dis Sci. 2021 Sep;66(9):2992-3001. doi: 10.1007/s10620-020-06629-0. Epub 2020 Sep 30.
Chronic enteropathy associated with the SLCO2A1 gene (CEAS) is an enteropathy characterized by multiple small intestinal ulcers of nonspecific histology, also known as chronic nonspecific multiple ulcers of the small intestine. The SLCO2A1 gene encodes a prostaglandin transporter (PGT).
The aim of this study was to investigate the clinical characteristics of ten Chinese patients with intestinal ulcers of unknown origin, screen them for variants of SLCO2A1, and to investigate the expression of PGT in the small intestinal mucosa of patients with CEAS.
Ten Chinese patients with intestinal ulcers of unknown origin were included in this study. Blood samples were collected for whole-exome sequencing and Sanger sequencing of candidate gene variants. Immunohistochemical staining was used to investigate the expression of PGT.
These ten patients were clinically diagnosed with intestinal ulcers of unknown origin based on criteria established according to earlier publications. Three of them were genetically diagnosed as having CEAS and four candidate variants of the SLCO2A1 gene were identified, among which c.941-1G>A, c.178G>A and c.1681C>T were detected in patients with CEAS for the first time. The terminal ileum was involved in all three patients with CEAS in our study, which was different from the results of Japanese patients. The expression of PGT in the vascular endothelial cells of the intestinal mucosa tissues of patients with CEAS was negative or intermediate.
We summarized the clinical data of ten Chinese patients with intestinal ulcers of unknown origin and identified three novel SLCO2A1 variants from three patients with CEAS. This study improves our understanding of CEAS and broadens the spectrum of SLCO2A1 variants known to cause CEAS.
与 SLCO2A1 基因相关的慢性肠病（CEAS）是一种以小肠多发性非特异性溃疡为特征的肠病，也称为慢性非特异性小肠多发性溃疡。SLCO2A1 基因编码一种前列腺素转运蛋白（PGT）。
本研究旨在探讨 10 例不明原因小肠溃疡患者的临床特征，对其 SLCO2A1 基因变异进行筛查，并研究 CEAS 患者小肠黏膜中 PGT 的表达情况。
本研究纳入 10 例不明原因小肠溃疡患者，采集血样进行全外显子测序和候选基因变异 Sanger 测序。采用免疫组织化学染色法检测 PGT 的表达。
根据既往文献建立的标准，这 10 例患者均被临床诊断为不明原因小肠溃疡。其中 3 例被基因诊断为 CEAS，并发现 4 个 SLCO2A1 基因的候选变异，其中 c.941-1G>A、c.178G>A 和 c.1681C>T 是首次在 CEAS 患者中发现。我们研究中的 3 例 CEAS 患者均累及末端回肠，与日本患者的结果不同。CEAS 患者的肠黏膜血管内皮细胞中 PGT 的表达为阴性或中等。
我们总结了 10 例不明原因小肠溃疡患者的临床资料，从 3 例 CEAS 患者中发现了 3 个新的 SLCO2A1 变异。本研究提高了我们对 CEAS 的认识，并拓宽了已知导致 CEAS 的 SLCO2A1 变异谱。
