Specific genetic variants of the autoimmune regulator (AIRE) gene could be associated with immune thrombocytopenia (ITP), according to a study recently published in the International Journal of Molecular Sciences.

“Our findings reveal that the AIRE rs2075876 genetic variants (AA genotype and A allele) and AA haplotype are associated with increased ITP risk in the Egyptian population and lower serum AIRE levels, whereas the rs760426 A/G [single nucleotide polymorphism (SNP)] is not,” the authors wrote.

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This case-control study included 96 patients previously diagnosed with primary ITP and 100 healthy individuals who served as the control group. All participants underwent genotype assessment of 2 SNPs of the AIRE gene through real-time polymerase chain reaction. The researchers also measured the serum AIRE levels.

After adjusting for age, sex, and family history of ITP, a specific AIRE variant correlated with an increased risk of ITP, with a statistically significant adjusted odds ratio of 4.29. Moreover, the AIRE plasma levels were lower among patients with ITP and decreased even more in those with the AIRE rs2075876 mutation. Likewise, lower levels of AIRE also positively correlated with the platelet count.

“Since the association between the two studied polymorphisms and autoimmune disorders has been reported, such as in a previous meta-analysis that revealed an association between these two SNPs and high [rheumatoid arthritis] risk under all genetic models, it is reasonable to assume that linkage disequilibrium may exist between these polymorphisms and may confer a risk for autoimmune disorders,” the authors explained.

The AIRE gene plays a fundamental role in the regulation of immune tolerance by inducing the negative selection of T cells that become autoreactive during their development process in the thymus. The relationship between multiple SNPs in this gene and other autoimmune entities has been well established for diseases such as systemic lupus erythematosus, myasthenia gravis, type 1 diabetes, and many others.


Abdel Ghafar MT, Elshora OA, Allam AA, et al. Autoimmune regulator gene polymorphisms and the risk of primary immune thrombocytopenic purpura: a case-control study. Int J Mol Sci. Published online March 5, 2023. doi:10.3390/ijms24055007