Molecular characterization of human echinococcosis in Sichuan, Western China

Cystic echinococcosis (CE) and alveolar echinococcosis (AE) are highly co-endemic in Sichuan, a part of Qinghai-Tibet Plateau where is a typical Tibetan nomadic community living area. In order to better understand the Echinococcus spp. of human being infected origins in this area, 140 lesions were collected from echinococcosis patients who were received operations during the period of 2014-2016 in different geographic districts in this region. Partial DNA sequences of the mitochondrial cox1 gene were analyzed. The genetic characterization of the isolates from 3 different places including Ganzi, Aba and Liangshan were assessed. Of all the 140 samples, the great majority was identified as Echinococcus granulosus sensu stricto (n = 108). Echinococcus multilocularis was confirmed to be another important pathogen of the human infections (n = 31). Additionally, one Echinococcus canadensis (G6/7) isolate from Ganzi was confirmed. Comparing the clinical diagnosis with the sequencing results, 6.4% (9/140) of the cases were misdiagnosed between AE and CE, and another 8.6% (12/140) were unclassified to sub-type in echinococcosis. Higher rates of misdiagnosis and unclassified diagnosis were found in AE cases (12.9%, 4/31 and 16.1%, 5/31 respectively) compared to CE (4.6%, 5/109 and 6.4%, 7/109 respectively). In E.granulosus s.s., a total of 34 haplotypes were detected, and 4 haplotypes were inferred from E.multilocularis. The haplotype networks of the 2 species exhibited a similar star-shaped feature with a dominant haplotype in the center. Geographically specific haplotypes were observed in Ganzi and Aba respectively. This study provides insight into the current species causing human echinococcosis in the Tibetan districts of Sichuan. E.granulosus s.s. and E.multilocularis are confirmed to be the main causative agents, and the existence of E.canadensis (G6/7) is also observed in the region. Molecular diagnosis was proven to be essential for the confirmation of human echinococcosis in the area.