TNFAIP3 Gene Polymorphisms and the Risk of Thrombocytopenia: A Cross-Sectional Study in Iranian Population

Thrombocytopenia, particularly immune thrombocytopenic purpura, is a prevalent hematological disorder characterized by low platelet counts, leading to increased bleeding risks. Genetic factors, including single nucleotide polymorphisms, are implicated in its pathogenesis. The TNFAIP3 gene, which encodes a negative regulator of inflammation, has been associated with various autoimmune diseases. This study investigates the association between TNFAIP3 polymorphisms (rs10499194 and rs2230926) and thrombocytopenia in an Iranian population.

This cross-sectional study enrolled a total of 156 participants, including 40 patients diagnosed with non-immune thrombocytopenia, 38 patients with autoimmune thrombocytopenia, and 78 healthy controls. Genotyping of the TNFAIP3 rs10499194 and rs2230926 polymorphisms was done by employing the Tetra-primer Amplification Refractory Mutation System PCR technique. Genotype and allele frequencies were compared between groups.

The frequencies of the CC, CT, and TT genotypes of the rs10499194 polymorphism in immune thrombocytopenia, non-immune thrombocytopenia, and healthy individuals were 63.2% (n = 24), 21.1% (n = 8), 15.8% (n = 6) for immune thrombocytopenia; 52.5% (n = 21), 27.5% (n = 11), and 20% (n = 8) for non-immune thrombocytopenia; and 76.9% (n = 60), 10.3% (n = 8), and 12.8% (n = 10) for healthy individuals, respectively. The CT and TT genotypes were significantly associated with an increased risk of thrombocytopenia (OR = 2.5, p = 0.02 for CT; OR = 1.8, p = 0.04 for TT). For rs2230926, all participants exhibited the TT genotype, with no variation observed. The lack of variation in rs2230926 is consistent with population databases, indicating low minor allele frequency in this region.

The rs10499194 polymorphism is significantly associated with thrombocytopenia, particularly in non-immune cases, suggesting a potential genetic predisposition. The absence of variation in rs2230926 may reflect population-specific genetic homogeneity. Further studies with larger sample sizes are needed to confirm these findings and explore clinical implications.