IL-10 gene promoter polymorphisms and leprosy in a Colombianpopulation sample

Abstract

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) wereidentified 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 alsoassociated 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 withleprosy in this population. Conclusions: The haplotypes associated with leprosy, -1082A-819C-592C/-1082A-819C-592C, havebeen reported as low producers of IL-10. Functionally, the low production of IL-10 may have immuneresponse consequences and clinical implications. Additional haplotypes of IL-10 have been reportedas markers forleprosy susceptibility or resistance in other ethnic populations. This suggests thatdifferences in distribution of diverse IL-10 gene polymorphisms among ethnic grups may indicateimportant gene-disease associations.