Pentraxin-3 polymorphisms and pulmonary fungal disease in non-neutropenic patients

Abstract

Background: Pentraxin 3 (PTX3) plays a non-redundant role in innate immunity against fungal diseases. Although single nucleotide polymorphisms (SNPs) of PTX3 are associated with a higher risk of invasive aspergillosis among the immunosuppressed population and chronic obstructive pulmonary disease patients, it is unknown whether PTX3 genetic variants influence the risk of pulmonary fungal disease in immunocompetent patients.Methods: To investigate the association between PTX3 gene polymorphisms and pulmonary mycosis in non-neutropenic patients, we conducted a case-control study in a tertiary hospital department. Forty-five patients were identified using the criteria of the European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (EORTC-MSG) and enrolled in the case group. Of these patients, 15 had allergic bronchopulmonary aspergillosis (ABPA), 10 had invasive pulmonary aspergillosis (IPA), 18 had pulmonary cryptococcosis, and 2 had other types of pulmonary mycosis. One hundred and twenty-two nonneutropenic inpatients not infected by fungal disease were randomly selected as the control group. We detected three SNPs (rs2305619, rs3816527, and rs1840680) within the PTX3 gene using polymerase chain reaction sequencing and compared their associations with different types of pulmonary fungal disease.Results: Three SNPs were consistent with Hardy-Weinberg equilibrium (HWE). SNP rs2305619 was in linkage disequilibrium with rs3816527 (D'=0.85) and rs1840680 (D'=0.85), respectively. There was no difference in the genotypic distribution and haplotype frequency of the SNPs between the case group and the control group. When we focused on invasive mold infections as a subgroup, we found that the SNP rs3816527 CC homozygote was associated with a higher risk of IPA (OR, 7.37; 95% CI, 0.93-44.44; P=0.033), while the rs3816527 AA homozygote might lower the risk of pulmonary cryptococcosis (OR, 0.35; 95% CI, 0.11-0.96; P=0.047). No genotypic distribution differences were observed for the other two SNPs (rs2305619 and rs1840680). When it came to the comparison between ABPA subgroup and control group, no difference in single nucleotide polymorphism was observed.Conclusions: This study showed that the SNP rs3816527 is associated with IPA in non-neutropenic patients. Further investigations in large populations are needed to validate this genetic predisposition.Functional studies are also required.

Recipient and donor PTX3 rs2305619 polymorphisms increase the susceptibility to invasive fungal disease following haploidentical stem cell transplantation: a prospective study

“…Moreover, they further elucidated that PTX3 deficiency in h2/h2 type affects the antifungal capacity of neutrophils, presumably due to messenger RNA instability, and this can be corrected after supplementing of exogenous PTX3. Tiantian Tang et al conducted a case–control study to show that PTX3 rs2305619 had no genotypic distribution differences, but rs3816527 was associated with invasive pulmonary aspergillosis (IPA) in non-neutropenic patients [ 24 ]. However, it is difficult to directly compare our data, and several points should be taken into consideration.…”

Impact of pentraxin 3 genetic variants on uterine cervical cancer clinicopathologic characteristics

“…Fisher et al reported that PTX3 genetic variants rs7252229 and rs3816527 may be associated with invasive aspergillosis following hematopoietic cell transplantation [34]. PTX3 SNP rs3816527 has been reported to be associated with invasive pulmonary aspergillosis in non-neutropenic patients [35]. Zhang et al suggested that PTX3 genetic variant rs3845978 was related to ankylosing spondylitis, but rs2305619 was not [36].…”

Recipient And Donor PTX3 rs2305619 Polymorphisms Increase The Susceptibility To Invasive Fungal Disease Following Haploidentical Stem Cell Transplantation: A Prospective Study

“…Moreover, they further elucidated that PTX3 de ciency in h2/h2 type affects the antifungal capacity of neutrophils, presumably due to messenger RNA instability, and this can be corrected after supplementing of exogenous PTX3. Tiantian Tang et al conducted a casecontrol study to show that PTX3 rs2305619 had no genotypic distribution differences, but rs3816527 was associated with IPA in non-neutropenic patients 23 . However, it is di cult to directly compare our data, and several points should be taken into consideration.…”