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Serum Laboratory Studies, Stool Test, Breath Test01:30

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Gastrointestinal (GI) diagnostic studies are pivotal in confirming, ruling out, diagnosing, or staging various diseases, including cancers. Following diagnosis, allocating time for discussions with the patient and providing informational resources is crucial. Diagnostic assessments of the GI tract often occur in outpatient settings like endoscopy suites or GI labs. Preparation for these tests may include dietary restrictions, fasting, liquid bowel preparations, laxatives, enemas, and the...
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Emerging markers in celiac disease.

Sajjad Bakhtiari1, Mohammad Rostami-Nejad2

  • 1Gastroenterology and Liver Diseases Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Department of Clinical Biochemistry, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Advances in Clinical Chemistry
|October 1, 2025
PubMed
Summary

Emerging biomarkers and novel technologies are improving celiac disease (CD) diagnosis and monitoring. Advances in serology, genetics, and multi-omics offer new tools for personalized CD management.

Keywords:
BiomarkersCeliac diseaseEpigeneticsGut microbiotaMetabolomicsSerology

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Area of Science:

  • Immunology
  • Gastroenterology
  • Biomarker Discovery

Background:

  • Celiac disease (CD) is an autoimmune disorder triggered by gluten in genetically susceptible individuals.
  • Current diagnostic methods (serology, biopsy, HLA genotyping) have limitations.
  • Novel autoantibodies, genetic/epigenetic markers, and immune profiles offer deeper insights.

Purpose of the Study:

  • To comprehensively review emerging biomarkers and novel technologies for celiac disease diagnosis and monitoring.
  • To highlight advances in serology, genetics, epigenetics, immune markers, metabolomics, and gut microbiota.
  • To discuss future directions including multi-omics and AI for personalized CD management.

Main Methods:

  • Review of advancements in serological markers (e.g., neo-epitope tTG).
  • Analysis of genetic and epigenetic markers (non-HLA alleles, methylation, ncRNAs).
  • Evaluation of immune response markers, gut microbiota, metabolomics, and protein/peptide biomarkers.
  • Exploration of emerging technologies like point-of-care testing (POCT).

Main Results:

  • Novel serological markers beyond tTG and EMA are being developed.
  • Genetic, epigenetic, and immune markers provide insights into CD susceptibility and pathophysiology.
  • Gut microbiota and metabolomic signatures offer potential diagnostic and monitoring tools.
  • Emerging technologies enhance diagnostic precision and facilitate personalized management.

Conclusions:

  • Emerging biomarkers and technologies significantly improve celiac disease diagnosis and monitoring.
  • Integration of multi-omics approaches and AI holds promise for refined diagnostic accuracy.
  • Future research should focus on personalized CD management strategies based on these advancements.