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Published on: March 22, 2012
Incorporating the Detection of Single Nucleotide Polymorphisms Associated With Invasive Aspergillosis Into the Clinic
P Lewis White1, Jessica S Price1
1Public Health Wales Mycology Reference Laboratory, University Hospital of Wales (UHW), Cardiff, United Kingdom.
Abstract:
Exposure to fungi is inevitable, yet only a small number of patients with significant clinical risk develop invasive aspergillosis (IA). While timing of exposure in relation to immune status, environmental and occupational factors will influence the probability of developing IA, factors specific to the individual will likely play a role and variation in the host's genetic code associated with the immunological response to fungi have been linked to increased risk of developing IA. Screening for SNPs in genes significantly associated with IA (e.g. Pentraxin-3, Toll-like receptor 4, Dectin-1, DC-SIGN) could form part of the clinical work-up on admission or post allogeneic stem cell transplantation, to complement fungal biomarker screening. Through the combination of clinical and genetic risk with mycological evidence, we are approaching a time when we should be able to accurately predict the risk of IA in the haematology patient, using predictive modelling to stratifying each individual's management. Understanding the host and their immune responses to infection through genomics, transcriptomics and metabolomics/proteomics is critical to achieving how we manage the individual's risk of IA, underpinning personalized medicine. This review will investigate what is known about the genetic risk associated with developing IA, primarily in haematology patients and whether these strategies are ready to be incorporated into routine clinical practice, and if not what are the remaining hurdles to implementation.
Insights
Genetic factors influence invasive aspergillosis (IA) risk in immunocompromised patients. Screening for specific gene variations alongside biomarkers could personalize IA risk prediction and management in hematology care.
Area of Science:
- Medical Mycology
- Immunogenetics
- Clinical Risk Stratification
Background:
- Invasive aspergillosis (IA) is a serious fungal infection, but only a subset of at-risk patients develop it.
- Host-specific genetic variations influencing immune response to fungi are linked to increased IA susceptibility.
- Current risk assessment often overlooks individual genetic predispositions.
Purpose of the Study:
- To review the role of genetic risk factors in developing IA, particularly in hematology patients.
- To evaluate the readiness of genetic screening strategies for routine clinical implementation.
- To identify remaining challenges in integrating genetic data into IA management.
Main Methods:
- Review of existing literature on genetic associations with IA.
- Analysis of single nucleotide polymorphisms (SNPs) in key immune response genes (e.g., Pentraxin-3, TLR4, Dectin-1, DC-SIGN).
- Discussion of integrating clinical, genetic, and mycological data for predictive modeling.
Main Results:
- Genetic screening for IA-associated SNPs could complement existing fungal biomarker screening.
- Combining clinical, genetic, and mycological data offers potential for accurate IA risk prediction.
- Genomic, transcriptomic, and proteomic insights are crucial for personalized IA management.
Conclusions:
- Genetic risk stratification holds promise for personalized IA management in hematology.
- Further research and validation are needed to overcome hurdles for routine clinical adoption of genetic screening for IA.
- Personalized medicine approaches, informed by host genomics, are key to improving IA outcomes.
