ArticlePLoS genetics2015
A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
77 citing papers in PubMed, 2 syntheses or guidelines pooled it, 144 citations in OpenAlex.
- Comprehensive evaluation of clinical phenotypes and pathogenic features in late-onset monogenic inflammatory bowel disease: a comparative study with infantile-onset cases.BMC gastroenterology · 2025Pooled it
- Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature.Orphanet journal of rare diseases · 2019Pooled it
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Integrative Proteomics and Phosphoproteomics Profiling of Chronic Enteropathy Associated withBiomedicines · 2026Article
- What we know about prostaglandin pathway dysfunction in chronic enteropathies: From endoscopy to molecular diagnosis.Journal of translational internal medicine · 2026Article
- Is There a Reliable, Rapid, and Economic Diagnostic Approach for SLCO2A1-Related Chronic Enteropathy?Journal of clinical medicine · 2026Article
- Structural basis for prostaglandin and drug transport via SLCO2A1.Nature communications · 2026Article
- BiallelicFrontiers in endocrinology · 2026Article
- Cryptogenic multifocal ulcerative stenosing enteritis (CMUSE): a rare case and a review of the literature.Journal of surgical case reports · 2026Article
- Chronic enteropathy associated with solute carrier organic anion transporter family memberWorld journal of gastrointestinal endoscopy · 2025Article
- Molecular basis of prostaglandin ENature communications · 2025Article
- Asian-Pacific perspectives on the management of very early-onset inflammatory bowel disease.Intestinal research · 2025Review
- Endocrine Alterations in Patients With Pachydermoperiostosis.The Journal of clinical endocrinology and metabolism · 2025Article
- Structure and transport mechanism of the human prostaglandin transporter SLCO2A1.Nature communications · 2025Article
- Chronic enteropathy associated with SLCO2A1 gene (CEAS) in Indian adolescents: Apropos of two cases.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2025Article
- Structure and post-translational modification of the prostaglandin transporter.Communications biology · 2025Article
- [Rare cause of massive joint effusions].Zeitschrift fur Rheumatologie · 2025Article
- Distinct features of three clinical subtypes in 533 patients with primary hypertrophic osteoarthropathy.Orphanet journal of rare diseases · 2025Article
- Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes forJBMR plus · 2025Article
- Chronic Stenosing Enteritis: A Variant of Chronic Non-specific Stenosing Ulceration (CNSU) that Is Distinct from Crohn's Disease.Digestive diseases and sciences · 2025Article
17 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Previously, we proposed a rare autosomal recessive inherited enteropathy characterized by persistent blood and protein loss from the small intestine as chronic nonspecific multiple ulcers of the small intestine (CNSU). By whole-exome sequencing in five Japanese patients with CNSU and one unaffected individual, we found four candidate mutations in the SLCO2A1 gene, encoding a prostaglandin transporter. The pathogenicity of the mutations was supported by segregation analysis and genotyping data in controls. By Sanger sequencing of the coding regions, 11 of 12 other CNSU patients and 2 of 603 patients with a diagnosis of Crohn's disease were found to have homozygous or compound heterozygous SLCO2A1 mutations. In total, we identified recessive SLCO2A1 mutations located at seven sites. Using RT-PCR, we demonstrated that the identified splice-site mutations altered the RNA splicing, and introduced a premature stop codon. Tracer prostaglandin E2 uptake analysis showed that the mutant SLCO2A1 protein for each mutation exhibited impaired prostaglandin transport. Immunohistochemistry and immunofluorescence analyses revealed that SLCO2A1 protein was expressed on the cellular membrane of vascular endothelial cells in the small intestinal mucosa in control subjects, but was not detected in affected individuals. These findings indicate that loss-of-function mutations in the SLCO2A1 gene encoding a prostaglandin transporter cause the hereditary enteropathy CNSU. We suggest a more appropriate nomenclature of "chronic enteropathy associated with SLCO2A1 gene" (CEAS).
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.