The prevalence in coeliac related hla haplotypes in paediatric IBD patients

Ertem Şahinoğlu D. , Akkelle B., Şengül Ö., Volkan B., Tutar E. , Ata P.

52. ESPGHAN, Glasgow, United Kingdom, 5 - 08 June 2019, vol.68, no.1, pp.592

  • Publication Type: Conference Paper / Full Text
  • Volume: 68
  • City: Glasgow
  • Country: United Kingdom
  • Page Numbers: pp.592


 Objectives and Study: Coeliac disease (CD) is an autoimmune enteropathy triggered by gluten

ingestion in genetically susceptible individuals. HLA-DQ2/DQ8 heterodimers on antigen-presenting

cells elicits a T-cell response, and plays a key role in pathogenesis. Recent reports regarding the

concurrent occurrence of CD and inflammatory bowel diseases (IBD) pointed out an association in the

pathogenesis. The aim of this study is to determine the prevalence of coeliac related HLA haplotypes

in our inflammatory bowel disease cohort.

 Methods: A total number of 134 paediatric IBD patients were evaluated, and patients younger than 2

years old and those diagnosed with primary immune deficiency were excluded (n=125). A blood

sample was drawn for anti-tissue transglutaminase (anti-tTG) and anti endomysium (EMA) IgA

antibodies. Further, HLA DQ2 (DQB1*02, DQA1*05) and DQ8 (HLADQB1*03:02) haplotypes were

assessed in 73 patients. The results were compared between Crohn's disease (CrD) and ulcerative

colitis (UC) patients.

 Results: The study group (n=125) included 57 (45.6%) children with CrD, 66 (52.8%) with UC and 2

(1.6%) with unclassified IBD. None of the patients had coeliac related histopathology, and both antitTG,

anti-EMA antibodies were negative in all patients. Among 73 patients, 22 (30.1%) and 39 (53.4%)

possessed HLA DQB1*02 and HLADQA1*05 alleles respectively, whereas both HLA DQB1*02 and

DQA1*05 (DQ2.5) alleles were positive in 19.2% of the patients. HLA DQB1*03:02 allele was

possessed by 17.8% of the patients in our study group. The number of patients who were positive for

HLA DQB1*02, DQA1*05 or HLA DQB1*02 and HLADQA1*05 alleles were comparable in Crohn's

disease and ulcerative colitis groups and there was no statistically significant difference between the


 Conclusion: The association between CD and IBD has been reported previously in adult population

however, there is scarce data in paediatric age group. Though the seroprevalence of celiac disease is

around 1-2% in this country, none of the IBD patients in the study group were positive for CD specific

antibodies. However, our results demonstrated that HLA DQB1*02, DQA1*05 and HLA DQB1*03:02

alleles that are associated with genetic susceptibility to CD are more prevalent in this IBD cohort than

the figures reported in general population (30.1% versus 16-23%, 53.4% versus 32% and 17.8%

versus 12.8% respectively). Since these shared genetic features may act as a risk factor for the

development of CD in patients with inflammatory bowel disease, celiac serology should be monitored

during the follow-up of IBD patients.