Host genetic susceptibility to mycetoma

Ali, Rayan S, Newport, Melanie J, Bakhiet, Sahar Mubarak, Ibrahim, Muntaser E and Fahal, Ahmed Hassan (2020) Host genetic susceptibility to mycetoma. PLOS Neglected Tropical Diseases. pp. 1-14. ISSN 1935-2727

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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, 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 where 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 hormones 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 to develop preventive and personalised clinical care strategies in the future.

Item Type: Article
Schools and Departments: Brighton and Sussex Medical School > Global Health and Infection
Depositing User: Manuela Mcdermid
Date Deposited: 03 Feb 2020 08:14
Last Modified: 05 May 2020 14:15

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