New potential genetic predictors of autoimmune adrenal insufficiency

AIM search for new genetic predictors of autoimmune adrenal insufficiency (AAI).

MATERIALS AND METHODS: In n=54 patients with AAI (isolated and as part of type 2 autoimmune polyglandular syndrome (APS-2; group 1)) and n=32 healthy individuals (group 2) we analyzed polymorphisms in IL28B (rs12979860, rs8099917), TLR9 (rs5743836, rs352140), TLR2 (rs5743708).

RESULTS: In group 1, compared with group 2, a predominance of CT genotype of rs12979860 polymorphism of IL28B (p=0.024), and T allele of rs5743836 polymorphism of TLR9 (p=0.044) was revealed. The allele C of rs5743836 polymorphism of TLR9 (p=0.044) was more common in group 2 than in group 1. With respect to other genotypes, alleles and haplotypes, no significant differences (or differences at the level of statistical trend) were found between groups 1 and 2.

CONCLUSION: Thus, it is possible that the CT genotype according to the polymorphic locus rs12979860 of the IL28B gene and the allele T of the rs5743836 polymorphism of the TLR9 gene are prognostic markers that increase the likelihood of developing AAI due to violation the peripheral immune tolerance (IT), whereas the allele C of the rs5743836 polymorphism of the TLR9 gene performs a protective role in this disease in the Russian population.

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