Association of Interleukin-1 β-31C/T, -511T/C and -3954C/T Single Nucleotide Polymorphism and Their Blood Plasma Level in Acquired Aplastic Anemia

AbstractAplastic anemia (AA) is an immune-mediated disorder in which hematopoietic stem and progenitor cells are targeted by a number of cellular and molecular pathways. This case control study aims to investigate the association of interleukin-1beta (IL-1 β) gene polymorphisms, (IL-1 β-31, IL-1β-511and IL-1 β-3954) and their plasma levels with acquired AA. Genotyping was done by Restricted Fragment Length Polymorphism (PCR –RFLP) method andIL-1 β plasma levels were evaluated in peripheral blood using ELISA. Increased level ofIL-1 β was reported to be significant in cases as compared to controls. The susceptibility of developing AA was higher in the cases forIL-1 β-3954 genotype.IL-1 β-511 genotype showed significant association with the severity groups of AA. No significant association was noticed in responder versus non-responder group. Plasma level ofIL-1 β gene was found to be significantly higher in severe and very-severe group of AA versus control group. Our findings suggest thatIL-1 β gene and its genotypes might be involved in the pathophysiology of AA and play a central role in the etiopathogenesis of AA.
Source: Indian Journal of Hematology and Blood Transfusion - Category: Hematology Source Type: research