@article{23490, keywords = {Adolescent, Adult, Aged, Aged, 80 and over, Case-Control Studies, Child, Colombia, Endemic Diseases, Ethnic Groups, European Continental Ancestry Group, Female, Gene Frequency, Genetic Predisposition to Disease, genotype, Haplotypes, Humans, Interleukin-10, leprosy, Male, Middle Aged, Mycobacterium leprae, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Young Adult}, author = {Cardona-Castro N and Sánchez-Jiménez M and Rojas W and Bedoya-Berrío G}, title = {IL-10 gene promoter polymorphisms and leprosy in a Colombian population 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) 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.

}, year = {2012}, journal = {Biomedica : revista del Instituto Nacional de Salud}, volume = {32}, pages = {71-6}, month = {2012 Jan-Mar}, issn = {0120-4157}, doi = {10.1590/S0120-41572012000100009}, language = {eng}, }