Blood Res.  2020 Dec;55(4):193-199. 10.5045/br.2020.2020009.

Prognostic value of TNF-α-308 and IFN-γ-874 single nucleotide polymorphisms and their plasma levels in patients with aplastic anemia

• Shukla S
• Tripathi AK
• Prasad Verma S
• Awasthi N

• KMID: 2509957
• DOI: http://doi.org/10.5045/br.2020.2020009

Abstract

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.

Keyword

Aplastic anemia; TNF-α-308; IFN-γ-874; Polymorphism; PCR-RFLP; ELISA

Figure

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  Fig. 1 (A) TNF-α-308 (G/A) poly-morphism; GG: wild homozygous (107 bp), GA: heterozygous (107 bp, 87 bp, and 20 bp), AA: mutant (87 bp and 20 bp), L: molecular weight ladder (50 bp ladder). (B) IFN-γ-874 (A/T) polymorphism; AA: wild homozygous (176 bp), AT: heterozygous (176 bp, 148 bp, and 28 bp), TT: mutant (148 bp and 28 bp), L: molecular weight ladder (50bp ladder).

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  Fig. 2 Plasma levels of IFN-γ in patients vs. healthy controls (A). Plasma levels of TNF-α in patients vs. healthy controls (B).

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