Variable Number of Tandem Repeats of TNF Receptor Type 2 Promoter as Genetic Biomarker of Susceptibility to Develop Invasive Pulmonary Aspergillosis

Antifungal prophylaxis in hematopoietic stem cell transplant recipients: the unfinished tale of imperfect success

“…Recent studies implicating metabolic factors 46,47 and genetic association studies [48][49][50][51][52][53][54][55][56] pointed out new subgroups of potential IFI risk factors. Specifically, single-nucleotide polymorphisms in Toll-like receptor genes in hematopoietic stem cell donors, single-nucleotide polymorphisms in the plasminogen gene in HSCT recipients, IL-1 gene polymorphisms and haplotypes, the chemotactic cytokine CXC10 polymorphisms, dectin-1 deficiency, baseline mannose-binding lectin levels before transplantation and iron overload assessed using iron staining in BM or measurement of serum ferritin levels were associated with increased risk of IA in HSCT recipients.…”

“…Specifically, single-nucleotide polymorphisms in Toll-like receptor genes in hematopoietic stem cell donors, single-nucleotide polymorphisms in the plasminogen gene in HSCT recipients, IL-1 gene polymorphisms and haplotypes, the chemotactic cytokine CXC10 polymorphisms, dectin-1 deficiency, baseline mannose-binding lectin levels before transplantation and iron overload assessed using iron staining in BM or measurement of serum ferritin levels were associated with increased risk of IA in HSCT recipients. [48][49][50][51][52][53][54][55][56] Table 1 depicts summary of published potential genetic risk factors for IFI's in SCT recipients. However, the issues of selective reporting and whether use of these markers enhances the clinical facts and routine laboratory predictors remain unresolved.…”

Genetic characterization and evolutionary inference of TNF-α through computational analysis

“…Furthermore, since LT-α (TNF-β) and TNF-α are considered to be very closely related genes, are products of duplication events, and are placed tandemly [10,11], evolutionary changes in these two genes were also studied. Since our goal was to infer the evolutionary status of the TNF-α gene, and it is known that TNF-α is absent in the avian lineage [12], we included the TNF-β sequence of an avian species, Gallus gallus, in our study.…”

“…In order to determine if the above-mentioned characteristics were also possessed by the TNF-β gene [10,11], we measured and compared length variations in the total coding and noncoding regions of these two genes (TNF-α and TNF-β) in all three taxa (H. sapiens, P. troglodytes and M. mulatta, Table 3). While significant differences in lengths of both the coding and non-coding sequences were found between these two genes (TNF-α and TNF-β), remarkable similarities were seen in the length of the coding nucleotide contents across taxa for TNF-β, except that H. sapiens contains about 35 bases of coding nucleotides more than the other two mammalian taxa (Table 3).…”

Polymorphisms in Host Immunity-Modulating Genes and Risk of Invasive Aspergillosis: Results from the AspBIOmics Consortium

“…The remarkable genetic variation of immune genes suggests that the presence of specific genetic variants in these genes influences their biological functions and, consequently, affect the risk of developing invasive fungal infections, such as IA. In support of this hypothesis, recent studies on genetic susceptibility have successfully identified several genetic variants on PRR genes (DC-SIGN, Dectin-1, TLRs, PTX3, and MBL) (27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40), cytokines (IL1 gene cluster, IL10, IL12, and IFN␥) (32,(41)(42)(43)(44), chemokines (CXCL10) (45), and immune receptors (TNFR1 and TNFR2) (46,47) as factors influencing the risk of developing IA. With this background, the purpose of this study was to comprehensively assess whether the presence of single-nucleotide polymorphisms (SNPs) within 14 immune-modulating genes (IL4, IL4R, IL8, IL8RA, IL8RB, IL10, IL12A, IL12B, IL13, IFN␥, IFN␥R2, CCR5, MIF, and VEGF) influence the risk of developing IA.…”