HLA DQ2 and HLA DQ8 genetic evaluation in children with Type 1 Diabetes Mellitus and Celiac Disease

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Aysun Ata
Özlem Anlaş
Didem Gülcü Taşkın

Abstract

Objective: Celiac disease (CD) is an autoimmune disease, and other autoimmune diseases co-existence is very high, like type 1 diabetes mellitus (T1DM). Our study aimed to determine the genetic structure of HLADQ2 and HLADQ8 in pediatric patients with T1DM and CD.


Materials and Methods: Our study was conducted retrospectively in patients aged 1-18 years with CD and T1DM, who were followed up in the Pediatric Endocrinology Outpatient Clinic in Adana, Turkey.


Results: A total of 876 patient records with a T1DM diagnosis were reviewed, and the genetic testing of 41 patients with CD and T1DM was evaluated. In 27 of these 41 patients, genetic analysis was performed by the same method and could be evaluated. Of the cases, 12 (44.4%) were female and 15 (55.6%) were male. The mean follow-up duration for the patients was 3.12 ± 1.75 years. The current age of the patients was 12.7± 3.71 years. While 7 (25.9 %) patients were symptomatic, 20 (74.1%) patients were asymptomatic when diagnosed with CD. The highest rates of HLA DQ2 and HLA DQ8 were found in patients with T1DM and CD.


Conclusion: In this study, we investigated, for the first time in our country, the HLA characteristics and clinical findings of a group of pediatric patients with both type 1 diabetes mellitus (T1DM) and celiac disease (CD). The rate of patients with HLA-DQA1* 05-DQB1 * 02-DQB1 *03:02 co-existence (HLA DQ2 and DQ8 co-positivity) was found to be as high as 40.7%, and this carrier was thought to be the riskiest group for T1DM and CD co-existence.

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How to Cite
Ata, A., Anlaş, Özlem, & Gülcü Taşkın, D. (2023). HLA DQ2 and HLA DQ8 genetic evaluation in children with Type 1 Diabetes Mellitus and Celiac Disease. Medical Science and Discovery, 10(3), 178–181. https://doi.org/10.36472/msd.v10i3.908
Section
Research Article
Received 2023-03-07
Accepted 2023-03-14
Published 2023-03-16

References

Dieli-Crimi R, Cénit MC, Núñez C. The genetics of celiac disease: A comprehensive review of clinical implications. Journal of Autoimmunity. 2015 Nov;64:26–41.

Lindfors K, Ciacci C, Kurppa K, Lundin KEA, Makharia GK, Mearin ML, et al. Coeliac disease. Nat Rev Dis Primers. 2019 Dec;5(1):3.

Husby S, Koletzko S, Korponay-Szabó IR, Mearin ML, Phillips A, Shamir R, et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition Guidelines for the Diagnosis of Coeliac Disease. Journal of Pediatric Gastroenterology & Nutrition. 2012 Jan;54(1):136–60.

Larsson K, Carlsson A, Cederwall E, Jönsson B, Neiderud J, Jonsson B, et al. Annual screening detects celiac disease in children with type 1 diabetes. Pediatric Diabetes. 2008 Aug;9(4pt2):354–9. Available from: https://onlinelibrary.wiley.com/doi/10.1111/j.1399-5448.2008.00367.x

Husby S, Koletzko S, Korponay-Szabó I, Kurppa K, Mearin ML, Ribes-Koninckx C, et al. European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2020. J Pediatr Gastroenterol Nutr. 2020 Jan;70(1):141–56.

Pham-Short A, Donaghue KC, Ambler G, Phelan H, Twigg S, Craig ME. Screening for Celiac Disease in Type 1 Diabetes: A Systematic Review. Pediatrics. 2015 Jul 1;136(1):e170–6.

Karell K, Louka AS, Moodie SJ, Ascher H, Clot F, Greco L, et al. Hla types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the european genetics cluster on celiac disease. Human Immunology. 2003 Apr;64(4):469–77. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0198885903000272

Poddighe D, Rebuffi C, Silvestri AD, Capittini C. Carrier frequency of HLA-DQB1*02 allele in patients affected with celiac disease: A systematic review assessing the potential rationale of a targeted allelic genotyping as a first-line screening. WJG. 2020 Mar 28;26(12):1365–81. Available from: https://www.wjgnet.com/1007-9327/full/v26/i12/1365.htm

De Silvestri A, Capittini C, Poddighe D, Valsecchi C, Marseglia G, Tagliacarne SC, et al. HLA-DQ genetics in children with celiac disease: a meta-analysis suggesting a two-step genetic screening procedure starting with HLA-DQ β chains. Pediatr Res. 2018 Mar;83(3):564–72. Available from: http://www.nature.com/articles/pr2017307

Noble JA, Erlich HA. Genetics of Type 1 Diabetes. Cold Spring Harbor Perspectives in Medicine. 2012 Jan 1;2(1): a007732–a007732. Available from: http://perspectivesinmedicine.cshlp.org/lookup/doi/10.1101/cshperspect.a007732

Karaoglan M. Tip 1 Diabetes Mellitus Tanılı Türk Çocuklarında Sınıf I ve Sınıf II HLA Allel Sıklığı. Turkish Journal of Pediatric Disease. 2019 Dec 18;1–8. Available from: https://dergipark.org.tr/tr/doi/10.12956/tchd.592466

Smigoc Schweiger D, Mendez A, Kunilo Jamnik S, Bratanic N, Bratina N, Battelino T, et al. High-risk genotypes HLA-DR3-DQ2/DR3-DQ2 and DR3-DQ2/DR4-DQ8 in co-occurrence of type 1 diabetes and celiac disease. Autoimmunity. 2016 May 18;49(4):240–7. Available from: http://www.tandfonline.com/doi/full/10.3109/08916934.2016.1164144

Alshiekh S, Maziarz M, Geraghty DE, Larsson HE, Agardh D. High‐resolution genotyping indicates that children with type 1 diabetes and celiac disease share three HLA class II loci in DRB3, DRB4 and DRB5 genes. HLA. 2021 Jan;97(1):44–51. Available from: https://onlinelibrary.wiley.com/doi/10.1111/tan.14105

Poddighe D, Rebuffi C, Silvestri AD, Capittini C. Carrier frequency of HLA-DQB1*02 allele in patients affected with celiac disease: A systematic review assessing the potential rationale of a targeted allelic genotyping as a first-line screening. WJG. 2020 Mar 28;26(12):1365–81.

Akar HH. Contribution of KIR genes on the genetic predisposition to celiac disease and coexisting celiac disease and type 1 diabetes mellitus. Rev Esp Enferm Dig. 2015;107. Available from: http://online.reed.es/fichaArticulo.aspx?iarf=224682766-749235410270

Hagopian W, Lee HS, Liu E, Rewers M, She JX, Ziegler AG, et al. Co-occurrence of Type 1 Diabetes and Celiac Disease Autoimmunity. Pediatrics. 2017 Nov 1;140(5):e20171305. Available from: https://publications.aap.org/pediatrics/article/140/5/e20171305/37854/Co-occurrence-of-Type-1-Diabetes-and-Celiac

Cerutti F, Bruno G, Chiarelli F, Lorini R, Meschi F, Sacchetti C, et al. Younger Age at Onset and Sex Predict Celiac Disease in Children and Adolescents With Type 1 Diabetes. Diabetes Care. 2004 Jun 1;27(6):1294–8. Available from: https://diabetesjournals.org/care/article/27/6/1294/22769/Younger-Age-at-Onset-and-Sex-Predict-Celiac

Llorente-Alonso M, Fernández-Aceñero M, Sebastián M. Gluten Intolerance: Sex- and Age-Related Features. Canadian Journal of Gastroenterology. 2006;20(11):719–22. Available from: http://www.hindawi.com/journals/cjgh/2006/470273/abs/

Mahmud FH, Murray JA, Kudva YC, Zinsmeister AR, Dierkhising RA, Lahr BD, et al. Celiac Disease in Type 1 Diabetes Mellitus in a North American Community: Prevalence, Serologic Screening, and Clinical Features. Mayo Clinic Proceedings. 2005 Nov;80(11):1429–34. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0025619611614365