ArticleEuropean journal of human genetics : EJHG2014
THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 34 citations in OpenAlex.
- Evaluation of Novel Immunohistochemical Biomarkers for the Diagnosis of Celiac Disease Demonstrates the Utility of TCRδ Immunostaining.Diagnostics (Basel, Switzerland) · 2026Article
- The role of Themis in development of type 2 diabetes.Research square · 2025Article
- Protein tyrosine phosphatase receptor type kappa (PTPRK) revisited: evolving insights into structure, function, and pathology.Journal of translational medicine · 2025Review
- Review
- A mutation in Themis contributes to anaphylaxis severity following oral peanut challenge in CC027 mice.The Journal of allergy and clinical immunology · 2024Article
- The receptor protein tyrosine phosphatase PTPRK promotes intestinal repair and catalysis-independent tumour suppression.Journal of cell science · 2024Article
- From an understanding of etiopathogenesis to novel therapies-what is new in the treatment of celiac disease?Frontiers in pharmacology · 2024Review
- Themis controls T cell activation, effector functions, and metabolism of peripheral CD8Life science alliance · 2023Article
- A mutation inbioRxiv : the preprint server for biology · 2023Article
- Integrative analysis of hepatic transcriptional profiles reveals genetic regulation of atherosclerosis in hyperlipidemic Diversity Outbred-F1 mice.Scientific reports · 2023Article
- Article
- Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?Frontiers in cell and developmental biology · 2022Review
- MAGI2 Gene Region and Celiac Disease.Frontiers in nutrition · 2019Article
- Transcription Factor Binding Site Enrichment Analysis in Co-Expression Modules in Celiac Disease.Genes · 2018Article
- Proteomic Analysis of Regulatory T Cells Reveals the Importance of Themis1 in the Control of Their Suppressive Function.Molecular & cellular proteomics : MCP · 2017Article
- Ancestry-based stratified analysis of Immunochip data identifies novel associations with celiac disease.European journal of human genetics : EJHG · 2016Article
- Immunopathogenesis and therapeutic approaches in pediatric celiac disease.Expert review of clinical immunology · 2016Review
- Increased THEMIS First Exon Usage in CD4+ T-Cells Is Associated with a Genotype that Is Protective against Multiple Sclerosis.PloS one · 2016Article
- Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac disease.European journal of human genetics : EJHG · 2015Article
- Therapeutic approaches for celiac disease.Best practice & research. Clinical gastroenterology · 2015Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Celiac disease (CD) is an immune mediated, polygenic disorder, where HLA-DQ2/DQ8 alleles contribute around 35% to genetic risk, but several other genes are also involved. Genome-wide association studies (GWASs) and the more recent immunochip genotyping projects have fine-mapped 39 regions of genetic susceptibility to the disease, most of which harbor candidate genes that could participate in this disease process. We focused our attention to the GWAS peak on chr6: 127.99-128.38 Mb, a region including two genes, thymocyte-expressed molecule involved in selection (THEMIS) and protein tyrosine phosphatase, receptor type, kappa (PTPRK), both of which have immune-related functions. The aim of this work was to evaluate the expression levels of these two genes in duodenal mucosa of active and treated CD patients and in controls, and to determine whether SNPs (rs802734, rs55743914, rs72975916, rs10484718 and rs9491896) associated with CD have any influence on gene expression. THEMIS showed higher expression in active CD compared with treated patients and controls, whereas PTPRK showed lower expression. Our study confirmed the association of this region with CD in our population, but only the genotype of rs802734 showed some influence in the expression of THEMIS. On the other hand, we found a significant positive correlation between THEMIS and PTPRK mRNA levels in CD patients but not in controls. Our results suggest a possible role for both candidate genes in CD pathogenesis and the existence of complex, regulatory relationships that reside in the vast non-coding, functional intergenic regions of the genome. Further investigation is needed to clarify the impact of the disease-associated SNPs on gene function.
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