Association between interleukin-2 (rs2069762) gene polymorphism and FVIII inhibitor development in Indonesian patients with severe hemophilia A

  • Sri Marwanta Department of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Dr. Moewardi General Hospital, Surakarta, Indonesia https://orcid.org/0000-0002-9105-595X
  • Faizal Muhammad Department of Neurology, Faculty of Medicine, Universitas Sebelas Maret, Universitas Sebelas Maret Hospital, Surakarta, Indonesia
  • Suradi Maryono Department of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Dr. Moewardi General Hospital, Surakarta, Indonesia
  • Kun Salimah Department of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Dr. Moewardi General Hospital, Surakarta, Indonesia
  • Sihwidhi Dimas Sudarmadi Department of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Dr. Moewardi General Hospital, Surakarta, Indonesia
  • Bambang Purwanto Department of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Dr. Moewardi General Hospital, Surakarta, Indonesia
  • Brian Wasita Department of Anatomical Pathology, Faculty of Medicine, Universitas Sebelas Maret, Dr. Moewardi General Hospital, Surakarta, Indonesia
  • Tonang Dwi Ardyanto Department of Clinical Pathology, Faculty of Medicine, Universitas Sebelas Maret, Universitas Sebelas Maret Hospital, Surakarta, Indonesia https://orcid.org/0000-0003-4267-7282
  • Soetrisno Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Sebelas Maret, Dr. Moewardi General Hospital, Surakarta, Indonesia
DOI: https://doi.org/10.13181/mji.oa.236439
Keywords: antibodies, factor VIII, hemophilia A, interleukin-2, single nucleotide polymorphism
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Abstract

BACKGROUND Factor VIII (FVIII) inhibitors in hemophilia A (HA) patients render FVIII replacement therapy ineffective. Although its development cause is unclear, it has been classified into therapeutic and genetic-related etiologies. Single nucleotide polymorphisms (SNPs) in several cytokine genes, including interleukin (IL)-2, could increase the risk of FVIII inhibitor development. This study aimed to evaluate the association between IL-2 (rs2069762) gene SNP and FVIII inhibitor development in Indonesian patients with severe HA.

METHODS The IL-2 (rs2069762) gene SNP was examined in 119 HA patients. The presence of FVIII inhibitors was quantified using an enzyme-linked immunosorbent assay, with a titer of <0.28 ng/ml considered negative. Patients were divided into two groups: 59 with FVIII inhibitors (positive group) and 60 without inhibitors (negative group). The genotype of the subjects was determined using peripheral blood mononuclear cells and tetra-primer amplification refractory mutation system-polymerase chain reaction.

RESULTS There was no association between IL-2 (rs2069762) gene polymorphism and FVIII inhibitor development on genotypes (p = 0.138) and allele frequencies (p = 0.780).

CONCLUSIONS IL-2 (rs2069762) gene polymorphism is not a risk factor in the development of FVIII inhibitors in Indonesian patients with severe HA. Thus, further polymorphism studies in other cytokine genes are required to gain a comprehensive understanding of the FVIII inhibitor development.

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Published
2023-03-08
How to Cite
1.
Marwanta S, Muhammad F, Maryono S, Salimah K, Sudarmadi SD, Purwanto B, Wasita B, Ardyanto TD, Soetrisno. Association between interleukin-2 (rs2069762) gene polymorphism and FVIII inhibitor development in Indonesian patients with severe hemophilia A. Med J Indones [Internet]. 2023Mar.8 [cited 2024Apr.20];31(4):213-7. Available from: http://mji.ui.ac.id/journal/index.php/mji/article/view/6439
Issue
Vol. 31 No. 4 (2022): December
Section
Basic Medical Research

Copyright (c) 2023 Sri Marwanta, Faizal Muhammad, Suradi Maryono, Kun Salimah, Sihwidhi Dimas Sudarmadi, Bambang Purwanto, Brian Wasita, Tonang Dwi Ardyanto, Soetrisno

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