ArticleHuman molecular genetics2019
Mendelian randomization analysis of celiac GWAS reveals a blood expression signature with diagnostic potential in absence of gluten consumption.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 20 citations in OpenAlex.
- TMEM161B-AS1: a pivotal long non-coding RNA in the pathogenesis of glioblastoma revealed by Mendelian randomization analysis.International journal of clinical and experimental pathology · 2026Article
- Impact of placental and peripheral blood DNA methylation on celiac disease susceptibility.Journal of pediatric gastroenterology and nutrition · 2025Article
- Diagnosis of celiac disease on a gluten-free diet: a multicenter prospective quasi-experimental clinical study.BMC medicine · 2025Article
- UBE2L3 expression in human gastric cancer and its clinical significance.Journal of cancer research and clinical oncology · 2024Article
- Sex bias in celiac disease: XWAS and monocyte eQTLs in women identify TMEM187 as a functional candidate gene.Biology of sex differences · 2023Article
- Functional implications of the CpG island methylation in the pathogenesis of celiac disease.Molecular biology reports · 2022Review
- Celiac disease in pediatric patients according to HLA genetic risk classes: a retrospective observational study.Italian journal of pediatrics · 2021Observational
- Systematic Prioritization of Candidate Genes in Disease Loci IdentifiesFrontiers in genetics · 2020Article
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Celiac disease (CeD) is an immune-mediated enteropathy with a strong genetic component where the main environmental trigger is dietary gluten, and currently a correct diagnosis of the disease is impossible if gluten-free diet (GFD) has already been started. We hypothesized that merging different levels of genomic information through Mendelian randomization (MR) could help discover genetic biomarkers useful for CeD diagnosis. MR was performed using public databases of expression quantitative trait loci (QTL) and methylation QTL as exposures and the largest CeD genome-wide association study conducted to date as the outcome, in order to identify potential causal genes. As a result, we identified UBE2L3, an ubiquitin ligase located in a CeD-associated region. We interrogated the expression of UBE2L3 in an independent data set of peripheral blood mononuclear cells (PBMCs) and found that its expression is altered in CeD patients on GFD when compared to non-celiac controls. The relative expression of UBE2L3 isoforms predicts CeD with 100% specificity and sensitivity and could be used as a diagnostic marker, especially in the absence of gluten consumption. This approach could be applicable to other diseases where diagnosis of asymptomatic patients can be complicated.
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