Evidence map›Paper›PMID 41751529›Full record

ArticleGenes2026

Structural Insights into HLA-DQ-Associated Susceptibility to Celiac Disease Through an Integrated Genetic and In Silico Approach in a Sardinian Population.

Faustina Barbara Cannea, Daniela Diana, Rossano Rossino, Alessandra Padiglia

Abstract read
In one paragraph

Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Faustina Barbara CanneaDepartment of Life and Environmental Sciences (DiSVA), Biomedical Section, University of Cagliari, Cittadella Universitaria di Monserrato, 09042 Monserrato, Italy.ORCID 0000-0003-1604-1918
Daniela DianaDepartment of Biomedical Sciences (DiSB), University of Cagliari, Cittadella Universitaria di Monserrato, 09042 Monserrato, Italy.ORCID 0009-0008-9191-6941
Rossano RossinoDepartment of Biomedical Sciences and Public Health (DSMSP), University of Cagliari, AOU Presidio Microcitemico, Via Jenner, 09121 Cagliari, Italy.ORCID 0000-0003-3850-2949
Alessandra PadigliaDepartment of Life and Environmental Sciences (DiSVA), Biomedical Section, University of Cagliari, Cittadella Universitaria di Monserrato, 09042 Monserrato, Italy.ORCID 0000-0002-0540-3082

Funding

Part of this study was supported by the Fondazione di Sardegna through the institutional project RICALTRO_CTC_2020_ROSSINO, awarded to Rossano Rossino. RICALTRO_CTC_2020_ROSSINO
6 · The paper itself

Abstract

backgroundCeliac disease (CD) is a multifactorial autoimmune disorder strongly associated with specific HLA class II molecules, particularly HLA-DQ-encoding haplotypes. Although the genetic contribution of these loci is well established, the structural features accompanying allele-specific disease susceptibility remain incompletely explored.

methodsIn this study, molecular HLA typing was integrated with in silico secondary structure analysis to examine the relationship between genetic predisposition and structural organization of HLA class II molecules in a Sardinian population. A total of 100 patients with CD and 100 healthy controls were genotyped for HLA-DR and HLA-DQ alleles, and allelic and haplotypic distributions were compared between groups. Secondary structure predictions were performed using PSIPRED on selected HLA class II alleles, focusing on groove-forming domains of HLA-DRB1 and HLA-DQA1.

resultsCD patients showed a marked enrichment of the DR3-DQ2.5 haplotype, together with a population-specific predominance of DQ2.5 and a reduced contribution of DQ8. Secondary structure analysis of the HLA-DRB1 β1 domain revealed a largely conserved organization, with only modest allele-dependent variations. In contrast, comparative analysis of HLA-DQA1 identified localized differences within the α1 domain, with the DQ2.5 molecule displaying a more coherent secondary structure organization compared with the lower-risk DQ2.2 variant.

conclusionsBy integrating genetic and in silico structural analyses, this study highlights that HLA-associated susceptibility to celiac disease reflects not only allele and haplotype distribution but also subtle, allele-specific features in the structural organization of peptide-binding regions. These findings provide a refined framework for interpreting HLA-DQ-mediated genetic risk and support the relevance of structural coherence as a complementary dimension in the assessment of disease susceptibility.

Indexed as

Celiac DiseaseGenetic Predisposition to DiseaseHLA-DQ alpha-ChainsHLA-DQ AntigensAdolescentAdultAllelesCase-Control StudiesChildComputer SimulationFemaleGene FrequencyGenotypeHaplotypesHLA-DRB1 ChainsHumansHLA-DQ8 antigenHLA-DQA1 antigenHLA-DQ alpha-ChainsHLA-DQ AntigensHLA-DRB1 Chainsceliac diseaseHLA class IIHLA-DQ2.2HLA-DQ2.5HLA-DQ8HLA-DR/DQ haplotypesimmunogeneticsPSIPREDSardinian populationsecondary structure prediction

Identifiers

PMID41751529
PMCPMC12940421

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.