HLA-DQ2 homozygosis increases tTGA levels at diagnosis but does not influence the clinical phenotype of coeliac disease: A multicentre study

Judit Bajor, Zsolt Szakács, Márk Juhász, Mária Papp, Dorottya Kocsis, Éva Szegedi, Ildikó Földi, Nelli Farkas, Péter Hegyi, Áron Vincze

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Background and purpose: Magnitude of gluten-specific T-cell responses in coeliac disease (CD) might be dependent on HLA-DQ2 gene dose. We aimed to investigate the effects of HLA-DQB1*02 allele dose on clinical outcomes. Methods: We reviewed the charts of all coeliac patients attending to three Hungarian university clinics after 1997 and included those patients, who (a) were diagnosed with CD, (b) underwent high-resolution HLA typing and (c) were ≥18 years at the time of data collection. HLA typing was performed to determine DQB1*02 allele dose. Patients were divided into risk groups by DQB1*02 allele dose, as follows: high-, intermediate- and low-risk groups corresponded to a double, single and zero doses, respectively. We used ANOVA and Pearson's chi-squared test to explore association between HLA risk and clinical variables. Results: A total of 727 coeliac patients attended the clinics but only 105 (14.4%) patients were eligible for inclusion. High, intermediate and low HLA risk patients comprised 35.3%, 52.3% and 12.3% of the study population, respectively. Double dose of HLA-DQB1*02 was more frequent in patient with high tTGA level (>10 times the upper limit of normal; p = 0.045). Gene dose was not associated with younger age at diagnosis (p = 0.549), gender (p = 0.739), more severe diagnostic histology (p = 0.318), more frequent classical presentation (p = 0.846), anaemia (p = 0.611), metabolic bone disease (p = 0.374), dermatitis herpetiformis (p = 0.381) and autoimmune diseases (p = 0.837). Conclusions: Our study shows a significant gene dose effect in terms of tTGA level at diagnosis, but no significant association between HLA-DQB1*02 allele dose and the clinical outcomes in CD.

Original languageEnglish
Pages (from-to)74-81
Number of pages8
JournalInternational Journal of Immunogenetics
Volume46
Issue number2
DOIs
Publication statusPublished - Apr 2019

Keywords

  • HLA-DQ2
  • Homozygosis
  • Phenotype
  • coeliac disease
  • gene dose

ASJC Scopus subject areas

  • Immunology
  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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