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Background Molecular markers are essential to identify  Echinococcus  species and genotypes in areas with multiple  Echinococcus  species to understand their epidemiology and pathology. Tibet Autonomous Region (TAR) is one of the areas worst hit by echinococcosis. However, molecular epidemiology is still missing among echinococcosis patients in TAR. This research explored the  Echinococcus  species and genotypes infecting humans in TAR and the population diversity and the possible origin of G1 in TAR. Methods Cyst samples were collected in one echinococcosis-designated hospital in TAR.  Echinococcus  species and genotypes were identified through a maximum-likelihood approach with near-complete/complete mtDNA using IQ-TREE. Phylogenetic networks were built with PopART, and the phylogeographical diffusion pattern was identified using a Bayesian discrete phylogeographic method. Results Using phylogenetic trees made with near-complete/complete mtDNA obtained from 92 cysts from TAR patients, the  Echinococcus  species and genotypes infecting humans in TAR were identified as  Echinococcus granulosus  (s.s.) G1 (81, 88.04%), accounting for the majority, followed by G6 of the  E. canadensis  cluster (6, 6.52%),  E. granulosus  (s.s.) G3 (3, 3.26%), and  E. multilocularis  (2, 2.17%). An expansion trend and a possible recent bottleneck event were confirmed among the G1 samples in TAR. Adding the other near-complete mtDNA of G1 samples globally from the literature, we identified the possible phylogeographic origin of the G1 samples in TAR as Turkey. Conclusions Using near-complete/complete mtDNA sequences of  Echinococcus  spp. obtained from echinococcosis patients, a variety of  Echinococcus  species and genotypes infecting humans throughout TAR were identified. As far as we know, this is the first comprehensive molecular investigation of  Echinococcus  species and genotypes infecting humans throughout TAR. We identified, for the first time to our knowledge, the possible origin of the G1 in TAR. We also enriched the long mtDNA database of  Echinococcus  spp. and added two complete  E. multilocularis  mtDNA sequences from human patients. These findings will improve our knowledge of echinococcosis, help to refine the targeted echinococcosis control measures, and serve as a valuable baseline for monitoring the  Echinococcus  species and genotypes mutations and trends of the  Echinococcus  spp. population in TAR. Graphical Abstract

parasites and vectors

Echinococcus spp. and genotypes infecting humans in Tibet Autonomous Region of China: a molecular investigation with near-complete/complete mitochondrial sequences