UMMS Affiliation

Department of Medicine, Division of Infectious Diseases and Immunology



Document Type



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.

Rights and Permissions

Copyright © The Author(s). 2017. Citation: BMC Infect Dis. 2017 Feb 28;17(1):177. doi: 10.1186/s12879-017-2281-4. Link to article on publisher's site

DOI of Published Version


Related Resources

Link to Article in PubMed


symptomatic infection, chronicity, cutaneous leishmaniasis, single nucleotide polymorphism

Journal Title

BMC infectious diseases

PubMed ID


Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.



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