Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI
Association between Interleukin-2 (rs2069762) Gene Polymorphism and FVIII Inhibitor Development in Indonesian Patients with Severe Hemophilia A
Dublin Core
Title
Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI
Association between Interleukin-2 (rs2069762) Gene Polymorphism and FVIII Inhibitor Development in Indonesian Patients with Severe Hemophilia A
Association between Interleukin-2 (rs2069762) Gene Polymorphism and FVIII Inhibitor Development in Indonesian Patients with Severe Hemophilia A
Subject
antibodies, factor VIII, hemophilia A, interleukin-2, single nucleotide
polymorphism
polymorphism
Description
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.
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.
Creator
Sri Marwanta, Faizal Muhammad, Suradi Maryono, Kun Salimah, Sihwidhi Dimas Sudarmadi, Bambang Purwanto, Brian Wasita, Tonang Dwi Ardyanto, Soetrisno
Source
https://doi.org/10.13181/mji.oa.236439
Date
February 27, 2023
Contributor
peri irawan
Format
pdf
Language
english
Type
text
Files
Citation
Sri Marwanta, Faizal Muhammad, Suradi Maryono, Kun Salimah, Sihwidhi Dimas Sudarmadi, Bambang Purwanto, Brian Wasita, Tonang Dwi Ardyanto, Soetrisno , “Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI
Association between Interleukin-2 (rs2069762) Gene Polymorphism and FVIII Inhibitor Development in Indonesian Patients with Severe Hemophilia A,” Repository Horizon University Indonesia, accessed December 11, 2024, https://repository.horizon.ac.id/items/show/1086.
Association between Interleukin-2 (rs2069762) Gene Polymorphism and FVIII Inhibitor Development in Indonesian Patients with Severe Hemophilia A,” Repository Horizon University Indonesia, accessed December 11, 2024, https://repository.horizon.ac.id/items/show/1086.