RESUMO
Single-nucleotide polymorphisms (SNPs) in cytokine genes can affect gene expression and thereby modulate inflammation and carcinogenesis. However, the data on the association between SNPs in the interleukin 1 beta gene (IL1B) and colorectal cancer (CRC) are conflicting. We found an association between a 4-SNP haplotype block of the IL1B (-3737C/-1464G/-511T/-31C) and CRC risk, and this association was exclusively observed in individuals with a higher proportion of African ancestry, such as individuals from the Coastal Colombian region (odds ratio, OR 2.06; 95% CI 1.31-3.25; p < 0.01). Moreover, a significant interaction between this CRC risk haplotype and local African ancestry dosage was identified in locus 2q14 (p = 0.03). We conclude that Colombian individuals with high African ancestry proportions at locus 2q14 harbour more IL1B-CGTC copies and are consequently at an increased risk of CRC. This haplotype has been previously found to increase the IL1B promoter activity and is the most frequent haplotype in African Americans. Despite of limitations in the number of samples and the lack of functional analysis to examine the effect of these haplotypes on CRC cell lines, our results suggest that inflammation and ethnicity play a major role in the modulation of CRC risk.
Assuntos
Neoplasias Colorretais/genética , Interleucina-1beta/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , População Negra/genética , Estudos de Casos e Controles , Cromossomos Humanos Par 2/genética , Colômbia , Neoplasias Colorretais/etnologia , Feminino , Loci Gênicos , Haplótipos , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
La leishmaniasis está formada por un grupo de enfermedades, parasitarias, causadas por diferentes especies de leishmania, que ocasionan diversos cuadros clínicos como son la L.visceral, L.cutánea y L.cutaneomucosa, siendo cada uno de ellos endémicos en áreas geográficas determinadas. En la leishmaniasis cutanomucosa las lesiones son mutilantes y suelen localizarse en mucosa nasal, faríngea y oral, dentro de esta última sobre todo en paladar. Presentamos el caso de un paciente con lesión izquierda, localización poco frecuente y cuyo diagnóstico trás el estudio histopatológico fue leishmaniasis cutánea.
