A1AT polymorphisms may be associated with clinical characteristics of retrovirus infections in a mixed ethnic population from the Brazilian Amazon region.

The present study investigated the association of alpha-1-antrypsin deficiency (S and Z polymorphisms), with HIV-1 and HTLV-1 infection.Blood samples from 201 HIV-1 and 115 HTLV-1 infected individuals were examined and compared with 300 healthy controls. Genotyping of A1AT (S and Z) and quantification of plasma viral load were performed using RT-PCR and TCD4+/CD8+ cell count was determined by flow cytometry.The wild-type MM genotype showed a higher frequency in the three groups investigated. SS and ZZ homozygous genotypes (variants) were observed only among HTLV-1 and controls, respectively. Genotype MS was statistically less frequent when comparing HTLV-1 positive persons to the control group. Statistical significant differences were observed when comparing genotype frequencies between symptomatic and asymptomatic HTLV-1 infected persons. The distribution of plasma HIV-1 viral load among individuals with different genotypes for A1AT polymorphism were also significantly different.The results suggest that A1AT polymorphisms may be associated with human retrovirus infections when dealing with an ethnically mixed population from the Amazon region of Brazil.