PB1853 IMMUNOREGULATORY CYTOKINES (IL1β‐3954 AND IFNγ‐874) GENE POLYMORPHISMS IN NORTH INDIAN PATIENTS AFFECTED BY ACQUIRED APLASTIC ANEMIA.

Abstract

Background:The etiopathogenesis of Acquired aplastic anemia is not clear. However immune mediated mechanisms are implicated in the genesis of this disease.Aims:The purpose of the study was to evaluate the polymorphisms in cytokine (IL1β‐3954 and IFN‐γ 874) genes in patients with acquired Aplastic Anemia (AA).Methods:In this observational case‐control study, 120 cases of AA & 120 healthy controls were taken under the standard criteria of Camitta's et al for AA. Genotyping for IL1β‐3954 and IFN‐γ 874 was performed using polymerase chain reaction and restriction fragment length polymorphism (PCR‐RFLP). Peripheral venous blood was collected in EDTA vial from all participants and DNA was extracted. Primer sequences of IL1β‐3954 and IFNγ‐ 874 genes were used under specific PCR conditions. PCR products were then digested with restriction enzymes at 37 °C for overnight. The digested products were run for gel electrophoresis and gel images were taken using the gel doc.Results:The frequency of homozygous (TT) variant genotypes of IL‐1β‐3954 was significantly associated with the higher susceptibility of developing AA when compared with the healthy controls (OR = 2.35, 95% CI = 1.10‐5.00, p = 0.0383). The mutant allele frequency (T) of IFN‐γ 874 showed a significant association with the lower susceptibility of developing AA when compared with the healthy controls (OR = 5.89, 95% CI = 3.97‐8.74, p = 0.0001).Summary/Conclusion:These findings suggest that IL‐1β‐3954 and IFN‐γ 874 gene polymorphisms may be implicated in the pathophysiology of Alastic Anemia.