Startseite Medizin Immunogenetic profiling of type 1 diabetes in Jordan: a case-control study on HLA-associated risk and protection
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Immunogenetic profiling of type 1 diabetes in Jordan: a case-control study on HLA-associated risk and protection

  • Rasha Odeh , Abeer Alassaf , Hussam Alhawari , Hanan Jafar , Abdalla Awidi , Farah Bani Hani und Malik Sallam ORCID logo EMAIL logo
Veröffentlicht/Copyright: 17. September 2025
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 38 Heft 11

Abstract

Objectives

To comprehensively investigate the association between HLA class II alleles and haplotypes with type 1 diabetes mellitus (T1DM) susceptibility in a Jordanian population.

Methods

In this case-control study, 205 patients with clinically confirmed T1DM and 99 ethnically matched healthy controls were genotyped for HLA-DRB1, DQA1, and DQB1 loci. Autoantibodies and thyroid function were evaluated. Haplotype frequencies were compared using the BIGDAWG R package, with odds ratios (ORs), 95 % confidence intervals (CIs), and false discovery rate (FDR) correction.

Results

HLA-DRB1*03:01 (OR=4.94, p<0.001), DRB1*04:02 (OR=3.87, p=0.003), and DRB1*04:05 (case-only; p=0.002) were associated with T1DM. Strong associations were also observed for DQA1*05:01 (OR=6.61, p<0.001) and DQB1*02:01 (OR=5.70, p<0.001). Protective effects were identified for DRB1*07:01, DRB1*15:02, DQA1*05:05, and DQB1*03:01 (all FDR<0.05). Among haplotypes, DR3∼DQ2 conferred the greatest risk (OR=5.40, p<0.001), while DRB1*11:04∼DQA1*05:05∼DQB1*03:01 was protective (OR=0.25, p=0.004). DRB1*03:01 was associated with GAD65 autoantibodies and celiac serology. DQA1*03:01 and DQA1*05:01 were linked to thyroid autoantibodies. No significant differences in age or HbA1c at diagnosis were observed across HLA alleles.

Conclusions

HLA class II variation was strongly associated with T1DM in Jordan, with DR3∼DQ2 and DR4 haplotypes driving susceptibility and DRB1*07, DRB1*15:02, and DQB1*03:01 conferring protection, reflecting global patterns while highlighting region-specific features. These findings support incorporating HLA genotyping into T1DM risk assessment and suggest shared genetic links with other autoimmune diseases.

Keywords: histocompatibility antigens; autoimmunity; genetic predisposition; genotype
Corresponding author: Malik Sallam, Department of Pathology, Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman 11942, Jordan; and Department of Clinical Laboratories and Forensic Medicine, Jordan University Hospital, Queen Rania Al-Abdullah Street-Aljubeiha/P.O. Box: (13046), Amman 11942, Jordan, E-mail:

Funding source: Deanship of Academic Research, University of Jordan

Award Identifier / Grant number: 2982/2018/19

  1. Research ethics: The study protocol was approved by the Institutional Review Board at JUH (IRB decision 6/2018, dated March 6, 2018) and conducted in accordance with the Declaration of Helsinki. Written informed consent was obtained from all participants or their legal guardians prior to enrollment.

  2. Informed consent: Informed consent was obtained from all individuals included in this study, or their legal guardians or wards.

  3. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission. Conceptualization: Rasha Odeh. Data Curation: Rasha Odeh, Abeer Alassaf, Hussam Alhawari, Hanan Jafar, Abdalla Awidi, Farah Bani Hani, Malik Sallam. Formal Analysis: Malik Sallam. Investigation: Rasha Odeh, Abeer Alassaf, Hussam Alhawari, Hanan Jafar, Abdalla Awidi, Farah Bani Hani, Malik Sallam. Methodology: Rasha Odeh, Abeer Alassaf, Hussam Alhawari, Hanan Jafar, Abdalla Awidi, Farah Bani Hani, Malik Sallam. Project administration: Rasha Odeh. Supervision: Rasha Odeh, Malik Sallam. Validation: Rasha Odeh, Malik Sallam. Visualization: Malik Sallam. Writing – Original Draft Preparation: Malik Sallam. Writing – Review & Editing: Rasha Odeh, Abeer Alassaf, Hussam Alhawari, Hanan Jafar, Abdalla Awidi, Farah Bani Hani, Malik Sallam.

  4. Use of Large Language Models, AI and Machine Learning Tools: OpenAI’s ChatGPT-4o model was used to refine the language and structure of the manuscript. All final edits and intellectual contributions were made solely by the authors, and no external funding or payment was involved in the writing process.

  5. Conflict of interest: The authors state no conflict of interest.

  6. Research funding: This study was supported by funding from the Deanship of Academic Research at the University of Jordan with ref. No. (2982/2018/19) granted on 24 June 2018. The Deanship of Academic Research at the University of Jordan as the funding body, had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

  7. Data availability: The data supporting the findings of this study are available from the corresponding author (Malik Sallam) upon reasonable request. Due to the sensitive and potentially identifiable nature of participant information, data access is restricted to protect patient confidentiality.

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Supplementary Material

This article contains supplementary material (https://doi.org/10.1515/jpem-2025-0402).

Received: 2025-07-18
Accepted: 2025-09-05
Published Online: 2025-09-17
Published in Print: 2025-11-25

© 2025 Walter de Gruyter GmbH, Berlin/Boston

Artikel in diesem Heft

  1. Frontmatter
  2. Original Articles
  3. Spatiotemporal associations between incidence of type 1 diabetes and COVID-19 vaccination rates in children in Germany – a population-based ecological study
  4. Continuous glucose monitoring evidence of celiac disease in type 1 diabetes
  5. Impact of race and delayed adoption of diabetes technology on glycemia and partial remission in type 1 diabetes
  6. Immunogenetic profiling of type 1 diabetes in Jordan: a case-control study on HLA-associated risk and protection
  7. Annual case counts and clinical characteristics of pediatric and adolescent patients with diabetes in Kenyatta National Hospital, Nairobi, Kenya. A 14 year retrospective study
  8. Real-world effectiveness of sodium glucose transporter 2 inhibitors among youth with type 2 diabetes
  9. Investigation of the association between nitric oxide synthase gene variants and NAFLD in adolescents with obesity
  10. Cardiometabolic outcomes in girls with premature adrenarche: a longitudinal analysis of typical vs. exaggerated presentations
  11. A disease that is difficult to predict: regional distribution and phenotypic, histopathological and genetic findings in McArdle disease
  12. Causal analysis of uterine artery pulsatility index-related proteins and the risk of precocious puberty in girls: a Mendelian randomization study
  13. Case Reports
  14. Understanding rickets in osteopetrosis via a case: mechanisms and treatment implications
  15. A case of JAGN1 mutation presenting with atypical diabetes and immunodeficiency
  16. Compound heterozygous ROBO1 gene variants in a neonate with congenital hypopituitarism, dysmorphic features and midline abnormalities: a case report and review of the literature
  17. Phenotypic variation among four members in a family with DAX1 deficiency
  18. MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets
  19. Congress Abstracts
  20. JA-PED | Annual Meeting of the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED e. V.)
https://doi.org/10.1515/jpem-2025-0402
Schlagwörter für diesen Artikel
histocompatibility antigens; autoimmunity; genetic predisposition; genotype

Artikel in diesem Heft

  1. Frontmatter
  2. Original Articles
  3. Spatiotemporal associations between incidence of type 1 diabetes and COVID-19 vaccination rates in children in Germany – a population-based ecological study
  4. Continuous glucose monitoring evidence of celiac disease in type 1 diabetes
  5. Impact of race and delayed adoption of diabetes technology on glycemia and partial remission in type 1 diabetes
  6. Immunogenetic profiling of type 1 diabetes in Jordan: a case-control study on HLA-associated risk and protection
  7. Annual case counts and clinical characteristics of pediatric and adolescent patients with diabetes in Kenyatta National Hospital, Nairobi, Kenya. A 14 year retrospective study
  8. Real-world effectiveness of sodium glucose transporter 2 inhibitors among youth with type 2 diabetes
  9. Investigation of the association between nitric oxide synthase gene variants and NAFLD in adolescents with obesity
  10. Cardiometabolic outcomes in girls with premature adrenarche: a longitudinal analysis of typical vs. exaggerated presentations
  11. A disease that is difficult to predict: regional distribution and phenotypic, histopathological and genetic findings in McArdle disease
  12. Causal analysis of uterine artery pulsatility index-related proteins and the risk of precocious puberty in girls: a Mendelian randomization study
  13. Case Reports
  14. Understanding rickets in osteopetrosis via a case: mechanisms and treatment implications
  15. A case of JAGN1 mutation presenting with atypical diabetes and immunodeficiency
  16. Compound heterozygous ROBO1 gene variants in a neonate with congenital hypopituitarism, dysmorphic features and midline abnormalities: a case report and review of the literature
  17. Phenotypic variation among four members in a family with DAX1 deficiency
  18. MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets
  19. Congress Abstracts
  20. JA-PED | Annual Meeting of the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED e. V.)
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