Cystic echinococcosis susceptibility is increased by polymorphisms in the transporter associated with antigen processing 1 and 2 genes

Susceptibility or resistance to various diseases, especially parasitic infections, largely depends on immune system function and genetics. Single nucleotide polymorphisms on the TAP1-637 and TAP2-379 genes may play a role in hydatidosis by affecting the immune system. This study was conducted as a case-control study. After confirmation by serological ELISA method, blood samples were collected from 76 people with hydatid cyst and also from 76 healthy people. DNA was extracted from the samples and the ARMS-PCR technique was used to identify mutations. To evaluate the accuracy and ensure the PCR results, some samples were also sequenced in two groups with different genotypes. Compared to the control group, the case group (infected group) had a higher frequency of the heterozygous Asp/Gly codon 637 of the TAP1 gene. In addition, the frequency of the Gly phenotype and allele was higher in the infected group (P < 0.05). Furthermore, the infected group had a higher frequency of the heterozygous Val/Ile codon 379 of the TAP2 gene. The frequency of the Ile phenotype and allele was also higher in the infected group than in the control group (P < 0. 05). The results of this study showed that the Gly allele and Asp/Gly genotype in codon 637 of the TAP1 gene, as well as the Ile allele and Val/Ile genotype in codon 379 of the TAP2 gene are considered genetic risk factors for cystic echinococcosis.