IL-10 gene promoter polymorphisms and leprosy in a Colombian population sample

introduction. polymorphisms in promoters of genes code for cytokines that affect transcription levels. several have been associated with leprosy patients that have functional and clinical implications. objective. polymorphisms in the promoter of the il10 gene of leprosy patients will be compared frequencies in normal population. materials and methods. snps (single nucleotide polymorphism) -1082 a/g (rs1800896), -819c/t (rs1800871), and -592a/c (rs1800872) were identified 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 were associated together with leprosy (or=4.34, p<0.001).similarly, the genotypes c/c and c/a in the -592 snp showed an association (or=4.3, p<0.001). the haplotypes -819c-519c and -1082a-819c-592c showed significant association (or=4.34, p<0.001 and or=6.25, p<0.001) respectively. these haplotypes in homozygosis conditions were also associated with leprosy: -819c-519c/-819c-519c (or=4.34, p<0.001), -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 haplotypes associated with leprosy, -1082a-819c-592c/-1082a-819c-592c, have been reported as low producers of il-10. functionally, the low production of il-10 may have immune response consequences and clinical implications. additional haplotypes of il-10 have been reported as markers for leprosy susceptibility or resistance in other ethnic populations. this suggests that differences in distribution of diverse il-10 gene polymorphisms among ethnic groups may indicate important gene-disease associations.