title: Screening of TNFα, IL-10 and TLR4 single nucleotide polymorphisms in individuals with asymptomatic and chronic cutaneous leishmaniasis in Colombia: a pilot study.
abstract: 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.
  
  
  
  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 TNFα, 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 TNFα-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.
  
  
  
  The A allele in TNFα-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.
  
  
  
  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.
authors.affiliation: Centro Internacional de Entrenamiento e Investigaciones Médicas-CIDEIM, Carrera 125 #, 19-225, Cali, Colombia.
authors.forename: Angélica
authors.initials: A
authors.lastname: Mera-Ramírez
authors.affiliation: Departamento de Biología. Facultad de Ciencias Naturales y Exactas, Universidad del Valle, Calle 13 No, 100-00, Cali, Colombia.
authors.forename: Andrés
authors.initials: A
authors.lastname: Castillo
authors.affiliation: Centro Internacional de Entrenamiento e Investigaciones Médicas-CIDEIM, Carrera 125 #, 19-225, Cali, Colombia.
authors.forename: Yenifer
authors.initials: Y
authors.lastname: Orobio
authors.affiliation: Centro Internacional de Entrenamiento e Investigaciones Médicas-CIDEIM, Carrera 125 #, 19-225, Cali, Colombia.
authors.forename: María Adelaida
authors.initials: MA
authors.lastname: Gómez
authors.affiliation: Centro Internacional de Entrenamiento e Investigaciones Médicas-CIDEIM, Carrera 125 #, 19-225, Cali, Colombia. cgallego@cideim.org.co.|Division of Infectious Diseases and Immunology, University of Massachusetts Medical School, 55 Lake Avenue North, 01655, Worcester, MA, USA. cgallego@cideim.org.co.
authors.forename: Carolina
authors.initials: C
authors.lastname: Gallego-Marin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D054458:Amplified Fragment Length Polymorphism Analysis; D058070:Asymptomatic Diseases; D016022:Case-Control Studies; D002648:Child; D002908:Chronic Disease; D003105:Colombia; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics*; D007892:Leishmania braziliensis; D016773:Leishmaniasis, Cutaneous / Q000235:genetics / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D010865:Pilot Projects; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D051197:Toll-Like Receptor 4 / Q000235:genetics*; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*; D055815:Young Adult
chemical_list: D005819:Genetic Markers; C508609:IL10 protein, human; C495345:TLR4 protein, human; D051197:Toll-Like Receptor 4; D014409:Tumor Necrosis Factor-alpha; D016753:Interleukin-10
keywords: Asymptomatic infection; Chronicity; Cutaneous leishmaniasis; Single nucleotide polymorphism