Trial reportGut2014
Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants.
Trial report in Gut, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.
What it found
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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
61 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Defining the optimum strategy for identifying adults and children with coeliac disease: systematic review and economic modelling.Health technology assessment (Winchester, England) · 2022Pooled it
- Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.European journal of human genetics : EJHG · 2016Pooled it
- Linkage between HLA-B8 and HLA-DQ2.5 contributes to ancestry-dependent risk for celiac disease.Journal of human immunity · 2026Article
- The clinical utility of exome sequencing for risk stratification in celiac disease.Journal of human immunity · 2026Article
- Article
- Genetic differences between diagnosed and undiagnosed Celiac disease: a population-based study.Human genetics · 2025Article
- Machine learning-based prediction of celiac antibody seropositivity by biochemical test parameters.Scientific reports · 2025Article
- Celiac Disease-Narrative Review on Progress in Celiac Disease.Foods (Basel, Switzerland) · 2025Review
- Coeliac disease: what can we learn from prospective studies about disease risk?The Lancet. Child & adolescent health · 2024Review
- Antibody Profile, Gene Expression and Serum Cytokines in At-Risk Infants before the Onset of Celiac Disease.International journal of molecular sciences · 2023Article
- Coeliac disease re-screening among once seronegative at-risk relatives: A long-term follow-up study.United European gastroenterology journal · 2022Article
- Review article: Becoming and being coeliac-special considerations for childhood, adolescence and beyond.Alimentary pharmacology & therapeutics · 2022Review
- Genetically modified rodent models and celiac, non-celiac gluten sensitivity: a minireview.Central European journal of public health · 2022Review
- Combination of HLA-DQ2/-DQ8 Haplotypes and a Single MSH5 Gene Variant in a Polish Population of Patients with Type 1 Diabetes as a First Line Screening for Celiac Disease?Journal of clinical medicine · 2022Article
- Development and external validation of a clinical prediction model to aid coeliac disease diagnosis in primary care: An observational study.EClinicalMedicine · 2022Article
- Gluten consumption and inflammation affect the development of celiac disease in at-risk children.Scientific reports · 2022Article
- Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.Nature medicine · 2021Review
- Wheat/Gluten-Related Disorders and Gluten-Free Diet Misconceptions: A Review.Foods (Basel, Switzerland) · 2021Review
- Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes.Journal of human genetics · 2021Article
- Deciphering the Transcriptomic Heterogeneity of Duodenal Coeliac Disease Biopsies.International journal of molecular sciences · 2021Article
1 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
27 authors.
Funding
Abstract
backgroundThe majority of coeliac disease (CD) patients are not being properly diagnosed and therefore remain untreated, leading to a greater risk of developing CD-associated complications. The major genetic risk heterodimer, HLA-DQ2 and DQ8, is already used clinically to help exclude disease. However, approximately 40% of the population carry these alleles and the majority never develop CD.
objectiveWe explored whether CD risk prediction can be improved by adding non-HLA-susceptible variants to common HLA testing.
designWe developed an average weighted genetic risk score with 10, 26 and 57 single nucleotide polymorphisms (SNP) in 2675 cases and 2815 controls and assessed the improvement in risk prediction provided by the non-HLA SNP. Moreover, we assessed the transferability of the genetic risk model with 26 non-HLA variants to a nested case-control population (n=1709) and a prospective cohort (n=1245) and then tested how well this model predicted CD outcome for 985 independent individuals.
resultsAdding 57 non-HLA variants to HLA testing showed a statistically significant improvement compared to scores from models based on HLA only, HLA plus 10 SNP and HLA plus 26 SNP. With 57 non-HLA variants, the area under the receiver operator characteristic curve reached 0.854 compared to 0.823 for HLA only, and 11.1% of individuals were reclassified to a more accurate risk group. We show that the risk model with HLA plus 26 SNP is useful in independent populations.
conclusionsPredicting risk with 57 additional non-HLA variants improved the identification of potential CD patients. This demonstrates a possible role for combined HLA and non-HLA genetic testing in diagnostic work for CD.
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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.