TY - JOUR KW - Adolescent KW - Adult KW - Aged KW - Aged, 80 and over KW - Case-Control Studies KW - Child KW - Colombia KW - Endemic Diseases KW - Ethnic Groups KW - European Continental Ancestry Group KW - Female KW - Gene Frequency KW - Genetic Predisposition to Disease KW - genotype KW - Haplotypes KW - Humans KW - Interleukin-10 KW - leprosy KW - Male KW - Middle Aged KW - Mycobacterium leprae KW - Polymorphism, Single Nucleotide KW - Promoter Regions, Genetic KW - Young Adult AU - Cardona-Castro N AU - Sánchez-Jiménez M AU - Rojas W AU - Bedoya-Berrío G AB -

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.

BT - Biomedica : revista del Instituto Nacional de Salud C1 - http://www.ncbi.nlm.nih.gov/pubmed/23235789?dopt=Abstract DA - 2012 Jan-Mar DO - 10.1590/S0120-41572012000100009 IS - 1 J2 - Biomedica LA - eng N2 -

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.

PY - 2012 SP - 71 EP - 6 T2 - Biomedica : revista del Instituto Nacional de Salud TI - IL-10 gene promoter polymorphisms and leprosy in a Colombian population sample. VL - 32 SN - 0120-4157 ER -