RRML - Polymorphisms in autophagy genes and active pulmonary tuberculosis susceptibility in Romania

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Nr. 25(1)/2017 DOI:10.1515/rrlm-2017-0002

Research article

Polymorphisms in autophagy genes and active pulmonary tuberculosis susceptibility in Romania

Mihai Gabriel Cucu, Ioana Streața, Anca Lelia Riza, Alina Liliana Cimpoeru, Simona Șerban-Șoșoi, Adela Ciocoiu, Răzvan Mihail Pleșea, Elena Leocadia Popescu, Ștefania Dorobanțu, Andreea Anghel, Aida Maria Stroe, Andreea Nicoleta Ștefan, Ramona Cioboată, Ileana Băzăvan, Marius Sorin Ciontea, Iulia Căpitănescu, Mihai Olteanu, Mimi Nițu, Florin Burada, Tiberiu Tătaru, Mihai Netea, Reinout van Crevel, Marian Olaru, Francisc Mixich, Mihai Ioana

Correspondence should be addressed to: Mihai Ioana

Abstract:

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.

Keywords: tuberculosis, gene polymorphism, autophagy, innate immune system, allele

Received: 12.7.2016
Accepted: 12.12.2016
Published: 8.1.2017

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Cucu MG, Streața I, Riza AL, Cimpoeru AL, Șerban-Șoșoi S, Ciocoiu A, et al. Polymorphisms in autophagy genes and active pulmonary tuberculosis susceptibility in Romania. Rev Romana Med Lab. 2017;25(1):47-53. DOI:10.1515/rrlm-2017-0002