Polymorphisms in autophagy genes and active pulmonary tuberculosis susceptibility in Romania

Autophagy, a homeostatic process involved in nutrient regeneration and immune responses, may be involved in intracellular killing of M. tuberculosis. Several studies linked variation in autophagy genes with susceptibility to pulmonary tuberculosis, but others did not confirm these findings.

We genotyped single nucleotide polymorphisms (SNPs) in the ATG5 (rs2245214, c.574-12777G>C) and NOD2 (rs2066844, c.2104C>T) genes for 256 pulmonary tuberculosis patients and 330 unrelated healthy controls in Romania. Both SNPs have been reported as relevant for the autophagy process and potentially for susceptibility to active pulmonary tuberculosis.

In our study, the polymorphisms in ATG5 and NOD2 were not associated with tuberculosis. This suggests that the two genetic variants we focused on are not related to the risk for developing active TB in a Romanian population.