Association of HLA-DQ2 and HLA-DQ8 risk alleles to intestinal injury and serology in patients with celiac disease
Palabras clave:
Autoimmune enteropathy, Genetic markers, GlutenResumen
Objective
This study aims to describe the distribution of main celiac disease risk alleles related to human leucocyte antigen complex and their association to the severity of intestinal injury, serological test results, CD-associated diseases and symptomatology.
Methods
The DNA of 140 celiac disease patients was analyzed, and the distribution of the three most important risk alleles to the celiac disease development was identified (DQA1*05:01, DQB1*02:01 and DRB1*04, the last one as a DQB1*03:02/DQA1*03/DRB1*04 haplotype marker). Data on serological tests, biopsy results, symptomatology and incidence of CD-associated diseases were collected by using a previously validated questionnaire.
Results
It was found that 98% of patients presented at least one copy of the studied alleles. Patients carrying simultaneously both HLA-DQ2 risk alleles were highly prevalent (75%), and 20.7% patients carried the HLA-DQ8 haplotype. Positive patients for both HLA-DQ2 risk alleles
presented positive association to anti-gliadin (p=0.037), anti-endomysium (p=0.001) and anti-transglutaminase (p=0.032) serological tests, and a higher prevalence of osteoporosis and hypothyroidism. Patients carrying one or none of those alleles often presented negative serological results. In addition, it was found an association between intestinal injury severity and genetic profile (p<0.001).
Conclusion
Results suggest that the HLA-DQ genotyping are associated to serological tests and the severity of intestinal damage in celiac disease patients.
Citas
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Derechos de autor 2025 Mônica Schiavon Costa, Giovana Ribeiro Pegoraro, Clédia Silveira Flores da Silva, Augusto Schneider, Ines Schadock, Fabiana Torma Botelho, Carlos Castilho Barros
Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.
