IL-10 gene promoter polymorphisms and leprosy in a Colombian population sample Polimorfismos en el gen promotor de IL-10 en una muestra de pacientes colombianos con lepra

Introduction. Polymorphisms in promoters of genes code for cytokines that affect transcription levels, which have been reported in leprosy patients with functional and clinical implications. Objective. Detect the polymorphism in the promoter of IL10 gene of the SNPs (Single nucleotide polymorphism) -1082 A/G (rs1800896), -819C/T (rs1800871), and -592A/C (rs1800872) in 100 leprosy patients and in a control group of 100 volunteers from a leprosy endemic region of Colombia. Results. The genotypes C/C and C/T in the SNP -819 together, were associated with leprosy (OR 4.34 p=1x10-3) and in the same way, the genotypes C/C and C/A in the -592 SNP showed association (OR = 4.3 p=1x10-3). The haplotypes -819C-519C and -1082A-819C-592C showed significant association (OR=4.34 p=1x10-3 and OR=6.25 p=5x10-4) respectively. These haplotypes in homozygosis conditions are also associated to leprosy, -819C-519C/-819C-519C (OR=4.34 p=1x10-3), -1082A -819C-592C/-1082A -819C-592C (OR=1.90 p=0.04). The SNP -1082 was not associated with leprosy in this population. Conclusions. The haplotype that we found associated with leprosy, -1082A-819C-592C/-1082A-819C-592C, had been reported as low producer of IL-10. Functionally this low production of IL-10 may have immune response consequences and clinical implications. Different haplotypes of IL-10 had been reported as markers for leprosy susceptibility or resistance in other populations, which suggest that differences in distribution of diverse IL-10 gene polymorphisms between ethnic groups are an important factor in determining gene disease association. Introducción. Los polimorfismos en genes promotores que codifican para citocinas y que afectan los niveles de transcripción, han sido reportados en pacientes con lepra con implicaciones clínicas y funcionales. Objetivo. Detectar los polimorfismos en el gen promotor de IL10, de los SNP (polimorfismo de un solo nucleótido) -1082 A/G (rs1800896), -819C/T (rs1800871), y -592A/C (rs1800872) en 100 pacientes con lepra y un grupo control de 100 voluntarios, de una región endémica de Colombia. Resultados. Los haplotipos -819C-519C y -1082A-819C-592C mostraron asociación significativa con lepra (OR=4,34 p=1x10-3 y OR=6,25 p=5x10-4) respectivamente. Estos haplotipos en condiciones homocigóticas, están también asociados con lepra -819C-519C/-819C-519C (OR=4,34 p=1x10-3), -1082A -819C-592C/-1082A -819C-592C (OR=1,90 p=0.04). El SNP -1082 no se encontró asociado con lepra en esta población. Los genotipos C/C y C/T en el SNP -819, se encontraron asociados a lepra (OR 4,34 p=1x10-3), de igual maner