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J Pediatr Genet 2022; 11(03): 192-197
DOI: 10.1055/s-0041-1722856
Original Article

Determination of High-Resolution HLA-DQB1 Suballeles and IL-17 Polymorphisms in Turkish Pediatric Patients

Aslı Eldem 
1   Department of Medical Biology and Genetics, Izmir Katip Celebi University, Izmir Tepecik Education and Research Hospital Tissue Typing Laboratory, İzmir, Turkey
,
Tülay Kılıçaslan Ayna 
1   Department of Medical Biology and Genetics, Izmir Katip Celebi University, Izmir Tepecik Education and Research Hospital Tissue Typing Laboratory, İzmir, Turkey
,
Maşallah Baran 
2   Department of Pediatric Gastroenterology, Izmir Katip Celebi University, Izmir Tepecik Education and Research Hospital, İzmir, Turkey
,
Mustafa Soyöz 
1   Department of Medical Biology and Genetics, Izmir Katip Celebi University, Izmir Tepecik Education and Research Hospital Tissue Typing Laboratory, İzmir, Turkey
,
İbrahim Pirim 
1   Department of Medical Biology and Genetics, Izmir Katip Celebi University, Izmir Tepecik Education and Research Hospital Tissue Typing Laboratory, İzmir, Turkey
› Author Affiliations Funding Our study was approved and supported by Izmir Katip Celebi University Scientific Research Projects Administration by Project number 2018-TYL-SABE-0055.
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Abstract

Celiac disease (CD) is an autoimmune enteropathy in the small intestine caused by gluten intolerance of the patients. The most important genetic disease-related factor is human leukocyte antigen (HLA)-DQ polymorphism. Association between interleukin (IL)-17A expression of CD4+ T cells and various autoimmune diseases has been reported. The aim of this study was to investigate the relationship between single nucleotide polymorphism (rs2275913) IL-17A and HLA-DQ polymorphisms in Turkish pediatric celiac patients. Study group included 125 pediatric celiac patients with CD and 100 healthy pediatric controls. Deoxyribonucleic acid was isolated from peripheral blood samples. IL-17A polymorphism (rs2275913) was analyzed by polymerase chain reaction-restriction fragment polymorphism method. IL-17A polymorphism and low-/high-resolution HLA-DQ results of patients were evaluated. GG and GA genotype frequencies of IL-17A (rs2275913) polymorphism were significantly higher (p < 0.05) in the CD patients than the control group. HLA-DQB1*02 and HLA-DQA1*05 alleles were detected in patients, while HLA-DQB1*03 and HLA-DQA1*01 alleles in the control group. Also, when we compared the patient and control groups in terms of HLA-DQ-DR haplotypes, HLA-DQB1*02-DQA1*05-DRB1*03 was found with the relative risk of 42.5 (p < 0.05). As a result of high-resolution HLA-DQB1 typing, DQB1*02:01 and DQB1*03:02 were at high frequency (p < 0.05; in 25 patient group). IL-17A (rs2275913) polymorphism genotype frequency was found to be significant in the patient group compared with the control group. The most common HLA-DQB1 suballele was observed as DQB1*02:01.

Keywords

celiac disease - human leukocyte antigen-DQ polymorphism - IL-17 polymorphism - gluten - pediatric

Ethical Approval

This study was approved by the Izmir Atatürk Education and Research Hospital Ethical Committee and conducted according to the Helsinki Declaration principles.


Informed Consent

Written informed consent was obtained from the patients who participated in this study


Authors' Contributions

Concept: A.E. and T.K.A.; Design: A.E. and T.K.A.; Supervision: İ.P.; Materials: M.B.; Data collection and/or processing: A.E.; Analysis and/or interpretation: A.E., T.K.A., and M.S.; Writing manuscript: A.E.; Critical review: M.B. and T.K.A.




Publication History

Received: 25 August 2020

Accepted: 12 December 2020

Article published online:
11 February 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
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