Host genetic susceptibility to mycetoma.
Mycetoma is one of the badly neglected tropical diseases, characterised by subcutaneous painless swelling, multiple sinuses, and discharge containing aggregates of the infecting organism known as grains. Risk factors conferring susceptibility to mycetoma include environmental factors and pathogen fa...
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ftdoajarticles:oai:doaj.org/article:e2e1da86e15145a78d8d2759d4c10093 2023-05-15T15:13:24+02:00 Host genetic susceptibility to mycetoma. Rayan S Ali Melanie J Newport Sahar Mubarak Bakhiet Muntaser E Ibrahim Ahmed Hassan Fahal 2020-04-01T00:00:00Z https://doi.org/10.1371/journal.pntd.0008053 https://doaj.org/article/e2e1da86e15145a78d8d2759d4c10093 EN eng Public Library of Science (PLoS) https://doi.org/10.1371/journal.pntd.0008053 https://doaj.org/toc/1935-2727 https://doaj.org/toc/1935-2735 1935-2727 1935-2735 doi:10.1371/journal.pntd.0008053 https://doaj.org/article/e2e1da86e15145a78d8d2759d4c10093 PLoS Neglected Tropical Diseases, Vol 14, Iss 4, p e0008053 (2020) Arctic medicine. Tropical medicine RC955-962 Public aspects of medicine RA1-1270 article 2020 ftdoajarticles https://doi.org/10.1371/journal.pntd.0008053 2022-12-31T07:16:57Z Mycetoma is one of the badly neglected tropical diseases, characterised by subcutaneous painless swelling, multiple sinuses, and discharge containing aggregates of the infecting organism known as grains. Risk factors conferring susceptibility to mycetoma include environmental factors and pathogen factors such as virulence and the infecting dose, in addition to host factors such as immunological and genetic predisposition. Epidemiological evidence suggests that host genetic factors may regulate susceptibility to mycetoma and other fungal infections, but they are likely to be complex genetic traits in which multiple genes interact with each other and environmental factors, as well as the pathogen, to cause disease. This paper reviews what is known about genetic predisposition to fungal infections that might be relevant to mycetoma, as well as all studies carried out to explore host genetic susceptibility to mycetoma. Most studies were investigating polymorphisms in candidate genes related to the host immune response. A total of 13 genes had allelic variants found to be associated with mycetoma, and these genes lie in different pathways and systems such as innate and adaptive immune systems, sex hormone biosynthesis, and some genes coding for host enzymes. None of these studies have been replicated. Advances in genomic science and the supporting technology have paved the way for large-scale genome-wide association and next generation sequencing (NGS) studies, underpinning a new strategy to systematically interrogate the genome for variants associated with mycetoma. Dissecting the contribution of host genetic variation to susceptibility to mycetoma will enable the identification of pathways that are potential targets for new treatments for mycetoma and will also enhance the ability to stratify 'at-risk' individuals, allowing the possibility of developing preventive and personalised clinical care strategies in the future. Article in Journal/Newspaper Arctic Directory of Open Access Journals: DOAJ Articles Arctic PLOS Neglected Tropical Diseases 14 4 e0008053 |
institution |
Open Polar |
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Directory of Open Access Journals: DOAJ Articles |
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ftdoajarticles |
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English |
topic |
Arctic medicine. Tropical medicine RC955-962 Public aspects of medicine RA1-1270 |
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Arctic medicine. Tropical medicine RC955-962 Public aspects of medicine RA1-1270 Rayan S Ali Melanie J Newport Sahar Mubarak Bakhiet Muntaser E Ibrahim Ahmed Hassan Fahal Host genetic susceptibility to mycetoma. |
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Arctic medicine. Tropical medicine RC955-962 Public aspects of medicine RA1-1270 |
description |
Mycetoma is one of the badly neglected tropical diseases, characterised by subcutaneous painless swelling, multiple sinuses, and discharge containing aggregates of the infecting organism known as grains. Risk factors conferring susceptibility to mycetoma include environmental factors and pathogen factors such as virulence and the infecting dose, in addition to host factors such as immunological and genetic predisposition. Epidemiological evidence suggests that host genetic factors may regulate susceptibility to mycetoma and other fungal infections, but they are likely to be complex genetic traits in which multiple genes interact with each other and environmental factors, as well as the pathogen, to cause disease. This paper reviews what is known about genetic predisposition to fungal infections that might be relevant to mycetoma, as well as all studies carried out to explore host genetic susceptibility to mycetoma. Most studies were investigating polymorphisms in candidate genes related to the host immune response. A total of 13 genes had allelic variants found to be associated with mycetoma, and these genes lie in different pathways and systems such as innate and adaptive immune systems, sex hormone biosynthesis, and some genes coding for host enzymes. None of these studies have been replicated. Advances in genomic science and the supporting technology have paved the way for large-scale genome-wide association and next generation sequencing (NGS) studies, underpinning a new strategy to systematically interrogate the genome for variants associated with mycetoma. Dissecting the contribution of host genetic variation to susceptibility to mycetoma will enable the identification of pathways that are potential targets for new treatments for mycetoma and will also enhance the ability to stratify 'at-risk' individuals, allowing the possibility of developing preventive and personalised clinical care strategies in the future. |
format |
Article in Journal/Newspaper |
author |
Rayan S Ali Melanie J Newport Sahar Mubarak Bakhiet Muntaser E Ibrahim Ahmed Hassan Fahal |
author_facet |
Rayan S Ali Melanie J Newport Sahar Mubarak Bakhiet Muntaser E Ibrahim Ahmed Hassan Fahal |
author_sort |
Rayan S Ali |
title |
Host genetic susceptibility to mycetoma. |
title_short |
Host genetic susceptibility to mycetoma. |
title_full |
Host genetic susceptibility to mycetoma. |
title_fullStr |
Host genetic susceptibility to mycetoma. |
title_full_unstemmed |
Host genetic susceptibility to mycetoma. |
title_sort |
host genetic susceptibility to mycetoma. |
publisher |
Public Library of Science (PLoS) |
publishDate |
2020 |
url |
https://doi.org/10.1371/journal.pntd.0008053 https://doaj.org/article/e2e1da86e15145a78d8d2759d4c10093 |
geographic |
Arctic |
geographic_facet |
Arctic |
genre |
Arctic |
genre_facet |
Arctic |
op_source |
PLoS Neglected Tropical Diseases, Vol 14, Iss 4, p e0008053 (2020) |
op_relation |
https://doi.org/10.1371/journal.pntd.0008053 https://doaj.org/toc/1935-2727 https://doaj.org/toc/1935-2735 1935-2727 1935-2735 doi:10.1371/journal.pntd.0008053 https://doaj.org/article/e2e1da86e15145a78d8d2759d4c10093 |
op_doi |
https://doi.org/10.1371/journal.pntd.0008053 |
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PLOS Neglected Tropical Diseases |
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14 |
container_issue |
4 |
container_start_page |
e0008053 |
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1766343954888916992 |