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Genotyping of coeliac-specific human leucocyte antigen in children with type 1 diabetes: does this screening method make sense?
Arch Dis Child 2017; 102(7):603-606AD

Abstract

OBJECTIVES

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.

STUDY DESIGN

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.

RESULTS

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.

CONCLUSIONS

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+Show Affiliations

Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria.Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria.Center of Blood Transfusion and Immunology, Innsbruck, Austria.Department of Medical Statistics, Informatics, and Health Economics, Medical University Innsbruck, Innsbruck, Austria.Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria.Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria.Institute of Medical and Chemical Laboratory Diagnostics, Medical University Innsbruck, Innsbruck, Austria.Institute of Medical and Chemical Laboratory Diagnostics, Medical University Innsbruck, Innsbruck, Austria.Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria.Department of Paediatrics, Medical University Graz, Innsbruck, Austria.Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria.

Pub Type(s)

Evaluation Study
Journal Article
Multicenter Study

Language

eng

PubMed ID

28039141

Citation

Binder, Elisabeth, et al. "Genotyping of Coeliac-specific Human Leucocyte Antigen in Children With Type 1 Diabetes: Does This Screening Method Make Sense?" Archives of Disease in Childhood, vol. 102, no. 7, 2017, pp. 603-606.
Binder E, Loinger M, Mühlbacher A, et al. Genotyping of coeliac-specific human leucocyte antigen in children with type 1 diabetes: does this screening method make sense? Arch Dis Child. 2017;102(7):603-606.
Binder, E., Loinger, M., Mühlbacher, A., Edlinger, M., Steichen, E., Meraner, D., ... Hofer, S. E. (2017). Genotyping of coeliac-specific human leucocyte antigen in children with type 1 diabetes: does this screening method make sense? Archives of Disease in Childhood, 102(7), pp. 603-606. doi:10.1136/archdischild-2016-311610.
Binder E, et al. Genotyping of Coeliac-specific Human Leucocyte Antigen in Children With Type 1 Diabetes: Does This Screening Method Make Sense. Arch Dis Child. 2017;102(7):603-606. PubMed PMID: 28039141.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genotyping of coeliac-specific human leucocyte antigen in children with type 1 diabetes: does this screening method make sense? AU - Binder,Elisabeth, AU - Loinger,Martina, AU - Mühlbacher,Annelies, AU - Edlinger,Michael, AU - Steichen,Elisabeth, AU - Meraner,Dagmar, AU - Loacker,Lorin, AU - Weigel,Guenter, AU - Müller,Thomas, AU - Fröhlich-Reiterer,Elke, AU - Hofer,Sabine E, Y1 - 2016/12/30/ PY - 2016/07/12/received PY - 2016/11/30/accepted PY - 2017/1/1/pubmed PY - 2017/8/29/medline PY - 2017/1/1/entrez KW - Adolescent Health KW - Diabetes KW - Epidemiology KW - Screening KW - celiac disease SP - 603 EP - 606 JF - Archives of disease in childhood JO - Arch. Dis. Child. VL - 102 IS - 7 N2 - OBJECTIVES: 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. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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. SN - 1468-2044 UR - https://www.unboundmedicine.com/medline/citation/28039141/Genotyping_of_coeliac_specific_human_leucocyte_antigen_in_children_with_type_1_diabetes:_does_this_screening_method_make_sense L2 - http://adc.bmj.com/cgi/pmidlookup?view=long&pmid=28039141 DB - PRIME DP - Unbound Medicine ER -