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Four Variants of SLCO2A1 Identified in Three Chinese Patients with Chronic Enteropathy Associated with the SLCO2A1 Gene

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Abstract

Background

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).

Aims

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.

Methods

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.

Results

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.

Conclusion

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.

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Acknowledgments

We thank the patients and their families for participating in this study. We also thank Drs. Zhenlin Zhang and Yang Xu for measuring the urinary PGE2 and PGE-M levels of patients for us.

Funding

This study was supported by the National Natural Science Foundation of China (Grant No. 81741057).

Author information

Authors and Affiliations

  1. Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China

    Hui Huang, Boda Wu, Bai Zhou, Yongjun Wang & Xiaoliu Shi

  2. Department of Gastroenterology, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China

    Xuehong Wang, Dalian Ou, Boda Wu, Bai Zhou & Yongjun Wang

  3. Department of Gastroenterology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China

    Xiaowei Liu

Authors
  1. Hui Huang
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  2. Xuehong Wang
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  4. Xiaowei Liu
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Correspondence to Yongjun Wang.

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This study was approved by the Ethics Committee of The Second Xiangya Hospital of Central South University and all methods were in accordance with the Declaration of Helsinki. All participants provided written informed consent forms to genetic and biochemical analysis and to publication of all identifying images.

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Huang, H., Wang, X., Ou, D. et al. Four Variants of SLCO2A1 Identified in Three Chinese Patients with Chronic Enteropathy Associated with the SLCO2A1 Gene. Dig Dis Sci 66, 2992–3001 (2021). https://doi.org/10.1007/s10620-020-06629-0

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