ArticleBMC medicine2013
A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways.
Article in BMC medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- A Meta-Synthesis Exploring Daily Experiences of Adults With Coeliac Disease in Adhering to a Gluten-Free Diet.Journal of human nutrition and dietetics : the official journal of the British Dietetic Association · 2025Pooled it
- Meta-Analysis and Systematic Review of HLA DQ2/DQ8 in Adults with Celiac Disease.International journal of molecular sciences · 2023Pooled it
- Comparison of DNA methylation profiles from saliva in Coeliac disease and non-coeliac disease individuals.BMC medical genomics · 2020Trial
- Frequency of HLA-DQ, susceptibility genotypes for celiac disease, in Brazilian newborns.Molecular genetics & genomic medicine · 2018Trial
- Case Series: Is Celiac Disease Underdiagnosed in Korean Children?The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi · 2025Article
- The Screening of Celiac Serology in Pediatric Patients Diagnosed with Type 1 Diabetes Mellitus.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2023Article
- Australasian paediatric gastroenterologist practices of coeliac disease diagnosis before and during the COVID-19 pandemic.Journal of paediatrics and child health · 2022Article
- Australasian Pediatric Gastroenterologists' Perspectives and Practices of Celiac Disease Diagnosis and Management.Digestive diseases and sciences · 2022Article
- Emerging Biomarkers for Screening and Management of Celiac Disease.BioMed research international · 2022Review
- TagSNP approach for HLA risk allele genotyping of Saudi celiac disease patients: effectiveness and pitfalls.Bioscience reports · 2021Article
- Article
- Cytokine release after gluten ingestion differentiates coeliac disease from self-reported gluten sensitivity.United European gastroenterology journal · 2020Observational
- Non-Responsive Coeliac Disease: A Comprehensive Review from the NHS England National Centre for Refractory Coeliac Disease.Nutrients · 2020Review
- How to manage adult coeliac disease: perspective from the NHS England Rare Diseases Collaborative Network for Non-Responsive and Refractory Coeliac Disease.Frontline gastroenterology · 2020Review
- Assessing the Utility of Multiplexed Liquid Chromatography-Mass Spectrometry for Gluten Detection in Australian Breakfast Food Products.Molecules (Basel, Switzerland) · 2019Article
- Narrow-band imaging with magnification and the water immersion technique: a case-finding, cost-effective approach to diagnose villous atrophy.Singapore medical journal · 2019Article
- HLA Haplotype Association with Celiac Disease in Albanian Pediatric Patients from Kosovo.Gastroenterology research and practice · 2019Article
- Validation of a novel single-drop rapid human leukocyte antigen-DQ2/-DQ8 typing method to identify subjects susceptible to celiac disease.JGH open : an open access journal of gastroenterology and hepatology · 2018Article
- A Serological Diagnosis of Coeliac Disease Is Associated with Osteoporosis in Older Australian Adults.Nutrients · 2018Article
- Celiac Disease: A Review of Current Concepts in Pathogenesis, Prevention, and Novel Therapies.Frontiers in pediatrics · 2018Review
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChanging perspectives on the natural history of celiac disease (CD), new serology and genetic tests, and amended histological criteria for diagnosis cast doubt on past prevalence estimates for CD. We set out to establish a more accurate prevalence estimate for CD using a novel serogenetic approach.
methodsThe human leukocyte antigen (HLA)-DQ genotype was determined in 356 patients with 'biopsy-confirmed' CD, and in two age-stratified, randomly selected community cohorts of 1,390 women and 1,158 men. Sera were screened for CD-specific serology.
resultsOnly five 'biopsy-confirmed' patients with CD did not possess the susceptibility alleles HLA-DQ2.5, DQ8, or DQ2.2, and four of these were misdiagnoses. HLA-DQ2.5, DQ8, or DQ2.2 was present in 56% of all women and men in the community cohorts. Transglutaminase (TG)-2 IgA and composite TG2/deamidated gliadin peptide (DGP) IgA/IgG were abnormal in 4.6% and 5.6%, respectively, of the community women and 6.9% and 6.9%, respectively, of the community men, but in the screen-positive group, only 71% and 75%, respectively, of women and 65% and 63%, respectively, of men possessed HLA-DQ2.5, DQ8, or DQ2.2. Medical review was possible for 41% of seropositive women and 50% of seropositive men, and led to biopsy-confirmed CD in 10 women (0.7%) and 6 men (0.5%), but based on relative risk for HLA-DQ2.5, DQ8, or DQ2.2 in all TG2 IgA or TG2/DGP IgA/IgG screen-positive subjects, CD affected 1.3% or 1.9%, respectively, of females and 1.3% or 1.2%, respectively, of men. Serogenetic data from these community cohorts indicated that testing screen positives for HLA-DQ, or carrying out HLA-DQ and further serology, could have reduced unnecessary gastroscopies due to false-positive serology by at least 40% and by over 70%, respectively.
conclusionsScreening with TG2 IgA serology and requiring biopsy confirmation caused the community prevalence of CD to be substantially underestimated. Testing for HLA-DQ genes and confirmatory serology could reduce the numbers of unnecessary gastroscopies.
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