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

Abstract

Factor VIII (FVIII) inhibitor causes FVIII replacement therapy to be ineffective in Hemophilia A (HA) patients. Single nucleotide polymorphisms (SNPs) of several cytokine genes have been found for the FVIII inhibitor development risk. This study aims to determine if interleukin-2 (IL-2) (rs2069762) gene SNP is associated with FVIII inhibitor development in Indonesian patients with severe HA. The IL-2 (rs2069762) gene SNP was examined in 119 patients. The participants were divided into FVIII inhibitor positive (n = 59) and negative (n = 60) groups. We used peripheral blood mononuclear cells samples and employed tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) to determine the sample genotype. The IL-2 (rs2069762) gene polymorphism analysis did not show a significant association between FVIII inhibitor development risk and genotypes (p = 0.138) and alleles (p = 0.780) frequencies. IL-2 (rs2069762) gene polymorphism is not related with FVIII inhibitor development in Indonesian patients with severe HA. Thus, further polymorphism studies are required to analyze others FVIII inhibitor-related cytokine genes.