Polymorphisms within the ARNT2 and CX3CR1 Genes Are Associated with the Risk of Developing Invasive Aspergillosis [Fungal and Parasitic Infections]

Invasive aspergillosis (IA) is a life-threatening infection that affects an increasing number of patients undergoing chemotherapy or allo-transplantation, and recent studies have shown that genetic factors contribute to disease susceptibility. In this two-stage, population-based, case-control study, we evaluated whether 7 potentially functional single nucleotide polymorphisms (SNPs) within the ARNT2 and CX3CR1 genes influence the risk of IA in high-risk hematological patients. We genotyped selected SNPs in a cohort of 500 hematological patients (103 of those had been diagnosed with proven or probable IA), and we evaluated their association with the risk of developing IA. The association of the most interesting markers of IA risk was then validated in a replication population, including 474 subjects (94 IA and 380 non-IA patients). Functional experiments were also performed to confirm the biological relevance of the most interesting markers. The meta-analysis of both populations showed that carriers of the ARNT2rs1374213G, CX3CR1rs7631529A, and CX3CR1rs9823718G alleles (where the RefSeq identifier appears as a subscript) had a significantly increased risk of developing IA according to a log-additive model (P value from the meta-analysis [PMeta] = 9.8 · 10–5, PMeta = 1.5 · 10–4, and PMeta =7.9 · 10–5, respectively). Haplotype analysis also confirmed the association of the CX3CR1 haplotype with AGCGG with an increased risk of IA (P = 4.0 &...

Source: Infection and Immunity - March 22, 2020 Category: Infectious Diseases Authors: Lupianez, C. B., Martinez-Bueno, M., Sanchez-Maldonado, J. M., Badiola, J., Cunha, C., Springer, J., Lackner, M., Segura-Catena, J., Canet, L. M., Alcazar-Fuoli, L., Lopez-Nevot, M. A., Fianchi, L., Aguado, J. M., Pagano, L., Lopez-Fernandez, E., Alarcon- Tags: Fungal and Parasitic Infections Source Type: research