Global diversity of soil-transmitted helminths reveals population-biased genetic variation that impacts diagnostic targets
Abstract
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.
Article Details
Authors (45)
Marina Papaiakovou
Andrea Waeschenbach
Olumide Ajibola
Sitara SR Ajjampur
Roy M. Anderson
Robin Bailey
Jade Benjamin-Chung
Maria Cambra-Pellejà
Nicolas R. Caro
David Chaima
Rubén O. Cimino
Piet Cools
Anelsio Cossa
Julia Dunn
Sean Galagan
Javier Gandasegui
Berta Grau-Pujol
Emma L. Houlder
Moudachirou Ibikounlé
Timothy P. Jenkins
Khumbo Kalua
Eyrun F. Kjetland
Alejandro J. Krolewiecki
Bruno Levecke
Adrian JF Luty
Andrew S. MacDonald
Lydia Becker Institute of Immunology and Inflammation, Division of Immunology, Immunity to Infection and Respiratory Medicine, School of Biological Sciences, The University of Manchester
Inácio Mandomando
Malathi Manuel
Maria Martínez-Valladares
Rojelio Mejia
Zeleke Mekonnen
Augusto Messa
Harriet Mpairwe
Osvaldo Muchisse
José Muñoz
Pauline Mwinzi
Valdemiro Novela
Maurice R. Odiere
Charfudin Sacoor
Judd L. Walson
Steven A. Williams
Stefan Witek-McManus
D. Timothy J. Littlewood
Cinzia Cantacessi
Stephen R. Doyle