Investigation of Genetic Susceptibility to Blastomycosis Reveals Interleukin-6 as a Potential Susceptibility Locus
Open accessAbstract
Blastomycosis is a potentially life-threatening infection caused by the fungus Blastomyces dermatitidis . As with related fungal diseases, blastomycosis is noted to affect some populations more than others. These patterns of illness are often not related to predisposing conditions or exposure risks; thus, genetic differences are thought to underlie these health disparities. People of Hmong ancestry in Wisconsin are at elevated risk of blastomycosis compared to the general population. We studied the genetic codes of Hmong blastomycosis patients and identified candidate sites in their genomes that may explain their susceptibility to this infection. We further studied one particular region of the genome that is involved with the immune processes that fight B. dermatitidis . Our work revealed population differences in the response to fungi. A better understanding of the genetic underpinnings of susceptibility to infectious diseases has broader implications for community health, especially in the paradigm of personalized medicine.
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SNPs in IL-6 associated with blastomycosis susceptibility appear to be overrepresented in the Hmong population, conveying increased risk.
“The aforementioned SNPs in IL-6 associated with blastomycosis susceptibility appear to be overrepresented in the Hmong population conveying increased risk [36].”
From Race and ethnicity: Risk factors for fungal infections? (2023) · cites this paper as [36]
Polymorphisms in IL-6 have been observed to be overrepresented in the Hmong population and been postulated as a risk factor for blastomycosis infection in this population.
“Underlying immunologic mechanisms may contribute as well, such as polymorphisms in IL-6 that have been observed to be overrepresented in the Hmong population and been postulated risk factor for blastomycosis infection in this population [36].”
From Race and ethnicity: Risk factors for fungal infections? (2023) · cites this paper as [36]
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- Authors
- Merkhofer, R. M., O’Neill, M. B., Xiong, D., Hernandez-Santos, N., Dobson, H., Fites, J. S., Shockey, A. C., Wuethrich, M., Pepperell, C. S., & Klein, B. S.
- Affiliations
- University of Wisconsin–Madison (US)
- Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin—Madison, Madison, Wisconsin, USA
- Corresponding author
- Pepperell, Caitlin S.
- Klein, Bruce S.
- ORCID
- Venue
- mBio
- Publisher
- American Society for Microbiology
- Published
- 2019-06-25
- Volume
- 10
- Issue
- 3
- ISSN
- 2150-7511 (ISSN-L)
- 2161-2129
- PMC
- PMC6581865
- OpenAlex
- W2949941790
- Cited by
- 39
- References
- 36
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 4 · 2023: 9 · 2022: 6 · 2021: 6 · 2020: 8 · 2019: 2
- FWCI
- 4.19
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- mBio (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- HHS | National Institutes of Health (AI035681, AI093553, MD011547)
- National Science Foundation (DGE-1255259)
- UW | School of Medicine and Public Health, University of Wisconsin-Madison (AAA4371)
- Topics
- Health Sciences › Medicine › Epidemiology › Fungal Infections and Studies
- Health Sciences › Medicine › Infectious Diseases › Antifungal resistance and susceptibility
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- blastomycosis, Blastomyces dermatitidis, genetic susceptibility, interleukin-6, health disparities, fungal infection, host immune response, genetic susceptibility loci, personalized medicine
- MeSH terms
- Whole Genome Sequencing, Animals, Blastomyces, Blastomycosis, Ethnicity, Female, Humans, Immunity, Cellular, Mice, Inbred C57BL, Saliva, Vaccination, Wisconsin, Vaccines, Inactivated, Interleukin-6, Genetic Predisposition to Disease, Interleukin-17, Mice, Immunogenetic Phenomena
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