Global diversity of soil-transmitted helminths reveals population-biased genetic variation that impacts diagnostic targets
Ajibola, Olumide Ajjampur, Sitara SR Anderson, Roy M Bailey, Robin Benjamin-Chung, Jade Cambra-Pellejà, Maria Caro, Nicolas R Chaima, David
Ajibola, Olumide
Ajjampur, Sitara SR
Anderson, Roy M
Bailey, Robin
Benjamin-Chung, Jade
Cambra-Pellejà, Maria
Caro, Nicolas R
Chaima, David
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2025-07-10
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2024-09-23
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infectious-disease diagnostics
parasite, genomics
parasite, genomics
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Abstract: Soil-transmitted helminths (STHs) are intestinal parasites that affect over a billion people worldwide. STH control relies on microscopy-based diagnostics to monitor parasite prevalence and enable post-treatment surveillance; however, molecular diagnostics are rapidly being developed due to increased sensitivity, particularly in low-STH-prevalence settings. The genetic diversity of helminths and its potential impact on molecular diagnostics remain unclear. Using low-coverage genome sequencing, we assess the genetics of STHs within worm, faecal, and purified egg samples from 27 countries, identifying differences in the genetic connectivity and diversity of STH-positive samples across regions and cryptic diversity between closely related human- and pig-infective species. We define substantial copy number and sequence variants in current diagnostic target regions and validate the impact of genetic variation on qPCR diagnostics using in vitro assays. Our study provides insights into the diversity and genomic epidemiology of STHs, highlighting both the challenges and opportunities for developing molecular diagnostics needed to support STH control efforts.
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Papaiakovou, M., Waeschenbach, A., Ajibola, O. et al. Global diversity of soil-transmitted helminths reveals population-biased genetic variation that impacts diagnostic targets. Nat Commun 16, 6374 (2025). https://doi.org/10.1038/s41467-025-61687-0
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Copyright © The Author(s) 2025. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The linked file is the published version of the article.
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2041-1723
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openAccess