Background: Aplastic anemia (AA), an unusual hematological disease, is characterized by hypoplasia of the bone marrow and failure to form blood cells of all three lineages resulting in pancytopenia. This study aimed to investigate TNF-α-308 and IFN-γ-874 gene polymorphisms and their respective plasma protein levels in patients with AA and healthy controls. Methods: Two hundred and forty individuals were included in this study; the case group comprised 120 AA patients, while 120 healthy individuals served as controls. Genotyping was performed using the PCR-restriction length fragment polymorphism method and TNF-α-308 and IFN-γ-874 plasma levels were evaluated using an ELISA kit. Results: There was a significantly higher prevalence of the IFN-γ-874 genotype in patients with AA than in healthy controls, while the TNF-α-308 genotype was associated with lower risk of developing AA. Furthermore, the levels of both TNF-α-308 and IFN-γ-874 were higher in the plasma of AA patients. Conclusion Our findings suggest that the IFN-γ-874 genotype may be a greater risk factor in the causation of AA, whereas the TNF-α-308 genotype has a protective role in the North Indian population.

BACKGROUND: Immune thrombocytopenia (ITP) is an immune-mediated disease caused by autoantibodies against platelets membrane glycoproteins GPIIb/IIIa and GPIb/IX. The etiology of ITP remains unclear. This study evaluated the association of polymorphisms in interleukin (IL)-1B-31, IL-1B-511, and IL-1Ra with ITP. METHODS: Genotyping of IL-1B-31, IL-1B-511, and IL-1Ra was performed in 118 ITP patients and 100 controls by polymerase chain reaction restriction fragment length polymorphism and detection of variable number tandem repeats. RESULTS: Genotype differences in IL-1B-31 and IL-1Ra were significantly associated with ITP. Patients showed a higher frequency of the IL-1B-31 variant allele (T) and a 1.52-fold greater risk of susceptibility to ITP (odds ratio [OR]=1.52, 95% confidence interval [CI]=1.04–2.22, P=0.034). The frequencies of both homozygous and heterozygous variant genotypes of IL-1B-31 were higher (OR=2.33, 95% CI=1.069–5.09, P=0.033 and OR=2.044, 95% CI=1.068–39, P=0.034) among patients and were significantly associated with ITP susceptibility. Both homozygous and heterozygous variant genotypes of IL-1Ra were also more frequent (OR=4.48, 95% CI=1.17–17.05, P=0.0230 and OR=1.80, 95% CI=1.03–3.14, P=0.0494) among patients and were associated with ITP risk. IL-1B-31 and IL-1Ra also showed significant association with severe ITP. However, IL-1B-511 was not associated with ITP. CONCLUSION: IL-1B-31 and IL-1Ra polymorphisms may significantly impact ITP risk, and they could be associated with disease severity, which may contribute to the pathogenesis of ITP.
Alleles ; Autoantibodies ; Genotype ; Humans ; Interleukin 1 Receptor Antagonist Protein ; Interleukin-1* ; Interleukins ; Membrane Glycoproteins ; Minisatellite Repeats ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Purpura, Thrombocytopenic, Idiopathic*