HLA DQA1* and HLA-DQB1* alleles and genetic susceptibility to autoimmune thyroiditis in Down syndrome children: An Indonesian study

Yuni Hisbiyah; Anang Endaryanto; Bagus Setyoboedi; Nur Rochmah; Muhammad Faizi; Sukmawati Basuki; Asri Maharani

doi:10.2478/enr-2025-0010

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HLA DQA1* and HLA-DQB1* alleles and genetic susceptibility to autoimmune thyroiditis in Down syndrome children: An Indonesian study

Endocrine Regulations

Volume 59 (2025): Issue 1 (January 2025)

By: Yuni Hisbiyah, Anang Endaryanto, Bagus Setyoboedi, Nur Rochmah, Muhammad Faizi, Sukmawati Basuki and Asri Maharani

Open Access

|Sep 2025

Abstract

Objective. The purpose of this study was to investigate the role of the HLA-DQA1 and HLADQB1 alleles in Indonesian children who had autoimmune thyroiditis (AITD) and Down syndrome (DS).

Methods. At Dr. Soetomo Hospital, 49 DS-AITD patients and 42 controls participated in a cross-sectional study. Alleles of HLA-DQA1*0103 and HLA-DQB1*0401 were genotyped by PCRRFLP assays. Allelic relationships were assessed by statistical studies.

Results. In the DS-AITD group, the HLA-DQA1*0103 and HLA-DQB1*0401 alleles were more frequently found. The HLA-DQB1*0303, *0402, and *0501/0604 alleles, on the other hand, were significantly more common in the control group. While the HLA-DQB1 *0303 (odds ratio [OR]=0.169, 95% confidence interval [CI]: 0.065–0.435, p=0.000) alleles significantly reduced AITD risk, the HLA-DQA1*0103 (OR=3.9, 95% CI: 1.552–9.797, p=0.003), and HLA-DQB1*0401 (OR=4.5, 95% CI: 1.326–15.277, p=0.010) alleles considerably increased AITD risk.

Conclusion. HLA-DQA1*0103 and HLA-DQB1*0401 are risk alleles, while HLA-DQB1 *0303 are protective alleles for AITD in children with DS. Further studies are required to obtain more data on Indonesians with DS.

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Articles in this issue

DOI: https://doi.org/10.2478/enr-2025-0010 | Journal eISSN: 1336-0329 | Journal ISSN: 1210-0668

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Language: English

Page range: 87 - 94

Published on: Sep 5, 2025

Published by: Slovak Academy of Sciences, Institute of Experimental Endocrinology

In partnership with: Paradigm Publishing Services

Publication frequency: 1 issue per year

Keywords:

HLA-DQA1,

HLA-DQB1,

gene polymorphism,

autoimmune thyroiditis,

Related subjects:

Basic medical science,

Basic medical science, other,

Clinical medicine,

Internal medicine,

Endocrinology, diabetology

© 2025 Yuni Hisbiyah, Anang Endaryanto, Bagus Setyoboedi, Nur Rochmah, Muhammad Faizi, Sukmawati Basuki, Asri Maharani, published by Slovak Academy of Sciences, Institute of Experimental Endocrinology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Volume 59 (2025): Issue 1 (January 2025)