%0 Journal Article %T A Functional Polymorphism of the Granulocyte Macrophage Colony Stimulating Factor is not Associated with the Outcome of HTLV-I Infection %A Abbas Shirdel %A Houshang Rafatpanah %A Hassan Rahimi %A Abdol Rahim Rezaee %J Iranian Journal of Basic Medical Sciences %D 2010 %I Mashhad University of Medical Sciences %X IntroductionGenetic 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 MethodsWe 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¨Cassociated 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. ResultsNo 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.ConclusionOur 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. %K Electrophoretic Mobility Shift Assay %K Gene Polymorphisms %K Granulocyte-Macrophage Colony-Stimulating Factor %K Human T-lymphotropic virus 1 %U http://www.mums.ac.ir/shares/basic_medical/basicmedjou/89/spring/a7.pdf