a functional polymorphism of the granulocyte macrophage colony stimulating factor is not associated with the outcome of htlv-i infection

introduction genetic background has known to be associated with the outcome of human t cell lymphotropic virus (htlv) type i infection. in the present study we investigate the association between gm-csf gene polymorphisms with the outcome of htlv-i infection. materials and methods we analyzed 3 single-nucleotide polymorphisms in the promter region of granulocyte macrophage colony stimulating factor (gm-csf) at positions -677*a/c, -1440*a/g and -1916*t/c in 68 patients with htlv- i-associated myelopathy/tropical spastic paraparesis (ham/tsp) and 77 htlv-i-seropositive asymptomatic carriers and 175 healthy controls from an area in iran, mashhad, where htlv-i is endemic. results no significant differences were observed in the distribution of gm-csf polymorphisms between ham/tsp patients, htlv-i carriers and healthy controls (p> 0.05). the -677*a/c polymorphism fall within the transcriptional enhancer factor-2 (tef-2) binding site, so an electrophoretic mobility shift assay (emsa) was performed to determine the effects of polymorphisms on protein binding to the gm-csf promoter. the result showed a significantly higher binding efficiency of nuclear protein to the a allele compared with the c allele. conclusion our study suggests that polymorphisms in the gm-csf promoter is not associated with the outcome of htlv-i infection, however, gm-csf polymorphism at position -677 could indeed influence gene expression.