title: Genotyping of coeliac-specific human leucocyte antigen in children with type 1 diabetes: does this screening method make sense?
abstract: Due to a high linkage disequilibrium of diabetes and coeliac-specific human leucocyte antigen (HLA) genotypes, the prevalence of coeliac disease (CD) in children and adolescents with diabetes mellitus type 1 (T1D) is much higher than in the general population. Recently, the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) revised new screening guidelines in which genotyping for coeliac-specific HLA alleles is recommended for high-risk patients as patients with T1D. The aim of our study was to investigate the frequency and distribution of coeliac-specific HLA genotypes in paediatric patients with T1D.
  
  
  
  HLA genotyping was performed on paediatric patients with T1D, recruited at the Medical University Hospital of Innsbruck and Graz. The test was done by PCR. Statistical analysis was performed with IBM-SPSS V.20.
  
  
  
  In 121 paediatric patients with T1D (52% male), mean age 13.3 (SD 3.9) years, mean age at diabetes diagnosis 7.4 (SD 3.8) and mean diabetes duration of 5.9 (SD 3.3) years, HLA genotyping was conducted. Ninety-two per cent showed positive HLA DQ2 and/or HLA DQ8 genotypes. Thirty-four per cent carried HLA DQ2, 33% were HLA DQ2+DQ8 positive and 25% of the patients showed positive results for HLA DQ8 alone. Only 8% had no coeliac-specific HLA markers. Four (3%) patients were diagnosed with CD.
  
  
  
  The majority of paediatric patients with T1D has positive coeliac-specific HLA genotypes DQ2 and/or DQ8. Therefore, genotyping for coeliac-specific HLA alleles as a first-line test in patients with T1D as recommended in the ESPGHAN guidelines does not seem reasonable. Screening for coeliac-specific antibodies needs to be performed on a regular basis for patients with T1D.
authors.affiliation: Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Binder
authors.affiliation: Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria.
authors.forename: Martina
authors.initials: M
authors.lastname: Loinger
authors.affiliation: Center of Blood Transfusion and Immunology, Innsbruck, Austria.
authors.forename: Annelies
authors.initials: A
authors.lastname: Mühlbacher
authors.affiliation: Department of Medical Statistics, Informatics, and Health Economics, Medical University Innsbruck, Innsbruck, Austria.
authors.forename: Michael
authors.initials: M
authors.lastname: Edlinger
authors.affiliation: Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Steichen
authors.affiliation: Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria.
authors.forename: Dagmar
authors.initials: D
authors.lastname: Meraner
authors.affiliation: Institute of Medical and Chemical Laboratory Diagnostics, Medical University Innsbruck, Innsbruck, Austria.
authors.forename: Lorin
authors.initials: L
authors.lastname: Loacker
authors.affiliation: Institute of Medical and Chemical Laboratory Diagnostics, Medical University Innsbruck, Innsbruck, Austria.
authors.forename: Guenter
authors.initials: G
authors.lastname: Weigel
authors.affiliation: Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria.
authors.forename: Thomas
authors.initials: T
authors.lastname: Müller
authors.affiliation: Department of Paediatrics, Medical University Graz, Innsbruck, Austria.
authors.forename: Elke
authors.initials: E
authors.lastname: Fröhlich-Reiterer
authors.affiliation: Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria.
authors.forename: Sabine E
authors.initials: SE
authors.lastname: Hofer
mesh_terms: D000293:Adolescent; D001317:Austria; D002446:Celiac Disease / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D042241:Early Diagnosis; D054242:Emigrants and Immigrants; D005260:Female; D005838:Genotype; D060005:Genotyping Techniques; D006683:HLA-DQ Antigens / Q000235:genetics*; D006801:Humans; D008297:Male; D012307:Risk Factors; D055815:Young Adult
chemical_list: D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; C109756:HLA-DQ8 antigen
keywords: Adolescent Health; Diabetes; Epidemiology; Screening; celiac disease