Investigating genetic profiles of cases of Schistosoma spp. imported into Europe: a cohort from the European Society of Clinical Microbiology and Infectious Diseases Study Group for Clinical Parasitology.
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Pomari Elena, Webster Bonnie L, Locatelli Elena, Álvarez-Martínez Miriam J, Arsuaga Marta, Bottieau Emmanuel, Bouchaud Olivier, Camprubi-Ferrer Daniel, Concu Maura, de Miguel Buckley Rosa, Koelewijn Rob, Marangoni Davide, Marteau Anthony, Nickel Beatrice, Rothe Camilla, Salvador Fernando, Schunk Mirjam, Goterris Lidia, Van Esbroeck Marjan, van Hellemond Jaap J, Wammes Linda J, Zammarchi Lorenzo, Pettene Sofia, Rizzi Eleonora, Scarso Salvatore, Gobbi Federico G, Tamarozzi Francesca
Аннотация
METHODS: Genetic profiles were obtained from DNA extracted from concentrated Schistosoma eggs or Schistosoma-positive samples (faeces, urine, biopsy) collected during routine diagnostic procedures. The species-specific cytochrome oxidase sub-unit 1 (cox1) diagnostic region and the standard complete internal transcribed spacer (ITS) 1 + ITS2 (ITS1 + 2) ribosomal DNA region were amplified and sequenced, together with a partial region of 18S ribosomal DNA in selected cases. Prevalences of the different genetic profiles within the whole patient cohort and by country/geographical area of possible infection were analysed. A phylogenetic analysis was performed using the larger cox1 (~ 956 base pairs) sequences dataset.
RESULTS: A total of 94 samples were available for analysis, 36 from patients with a diagnosis of intestinal schistosomiasis and 58 with urinary schistosomiasis, all acquired in a sub-Saharan African country. Mitochondrial (mt) cox1, nuclear ITS1 + 2 and/or 18S (mt/nuclear) genotypes were successfully obtained from 51/94 (54%) samples; while for 43/94 (46%) samples, only a partial mt genotype was obtained. Infections with Schistosoma haematobium and Schistosoma mansoni were identified in the majority of cases (66/94; 70%), while mixed Schistosoma spp. genetic profiles, which were identified in 30% (28/94) of the samples, were almost exclusively (27/28; 96%) associated with cases of urinary schistosomiasis. Among the urinary infections, almost half (27/58; 47%) could be identified as having a mixed genetic profile. These mostly (26/28; 93%) included genetic traits of S. haematobium and Schistosoma bovis, and all were from patients probably infected in West Africa.
CONCLUSIONS: Infections with S. haematobium and S. mansoni represent the majority of cases of schistosomiasis currently being diagnosed in Europe; however, mixed Schistosoma genetic profiles (mostly S. haematobium/S. bovis) were identified in at least 30% of samples. Our results call for a coordinated effort encompassing prompt diagnosis and treatment of Schistosoma infections, together with monitoring of the possible introduction of species of Schistosoma and establishment of their autochthonous transmission under suitable conditions in Europe.