Department of Medicine, Division of Infectious Diseases and Immunology
Genetics and Genomics | Immunology and Infectious Disease | Parasitic Diseases
BACKGROUND: Clinical manifestations of cutaneous leishmaniasis (CL) caused by Leishmania (Viannia) range from asymptomatic infection to self-limited, or chronic (non-healing) cutaneous lesions. Given the critical role of the immune response in the clinical outcome of CL, it is plausible that functional polymorphisms in immune-related genes contribute to define the clinical manifestations of human infection.
METHODS: DNA samples from a retrospective cohort of individuals from an endemic area of L. V. panamensis transmission in Colombia were used to determine the frequency of SNPs in TNFalpha, IL-10 and TLR4 genes. DNA samples were obtained from 74 adult participants: 38 patients presenting chronic cutaneous leishmaniasis (CCL) and 36 individuals with asymptomatic infection. Genotyping of TNFalpha-308G/A, IL-10-819C/T, and TLR4 Asp299Gly and Thr399Ile SNPs, was conducted by PCR-restriction fragment length polymorphisms. Allele, genotype frequencies and associations between SNPs and clinical groups were evaluated.
RESULTS: The A allele in TNFalpha-308G/A SNP was found more frequently in individuals with asymptomatic infection (16% vs 7%), whereas the CC genotype in IL-10-819 C/T SNP was more frequent in patients with CCL (34% vs. 27% in asymptomatic individuals). No differences in allele frequencies for TLR4 SNPs were found among groups.
CONCLUSION: This study provides a reference base for statistical power calculation and design of association studies of genetic polymorphisms in immune response related-genes and the pathogenesis of infections caused by L. V. panamensis.
symptomatic infection, chronicity, cutaneous leishmaniasis, single nucleotide polymorphism
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Copyright © The Author(s). 2017.
DOI of Published Version
BMC Infect Dis. 2017 Feb 28;17(1):177. doi: 10.1186/s12879-017-2281-4. Link to article on publisher's site
BMC infectious diseases
Mera-Ramirez A, Castillo A, Orobio Y, Gomez MA, Gallego-Marin C. (2017). Screening of TNFalpha, IL-10 and TLR4 single nucleotide polymorphisms in individuals with asymptomatic and chronic cutaneous leishmaniasis in Colombia: a pilot study. Open Access Articles. https://doi.org/10.1186/s12879-017-2281-4. Retrieved from https://escholarship.umassmed.edu/oapubs/3087
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