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 ۳ single-nucleotide polymorphisms in the promter region of granulocyte macrophage colony stimulating factor (GM-CSF) at positions -۶۷۷*A/C, -۱۴۴۰*A/G and -۱۹۱۶*T/C in ۶۸ patients with HTLV- I-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and ۷۷ HTLV-I-seropositive asymptomatic carriers and ۱۷۵ 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> ۰.۰۵). The -۶۷۷*A/C polymorphism fall within the transcriptional enhancer factor-۲ (TEF-۲) 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 -۶۷۷ could indeed influence gene expression.

Keywords:

Electrophoretic Mobility Shift Assay , Gene Polymorphisms , Granulocyte-Macrophage Colony-Stimulating Factor , Human T-lymphotropic virus ۱