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 fre...

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Publicado en:Biomédica: Revista del Instituto Nacional de Salud Vol. 32; no. 1; pp. 71 - 77
Autores principales: Cardona-Castro, Nora, Sánchez-Jiménez, Miryam, Rojas, Winston, Bedoya-Berrío, Gabriel
Formato: Artículo
Publicado: Instituto Nacional de Salud of Colombia mar2012
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Acceso en línea:Ver este registro en EBSCOhost
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      dt: mar2012
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        atl: IL-10 gene promoter polymorphisms and leprosy in a Colombian population sample.
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        au:
          Cardona-Castro, Nora
          Sánchez-Jiménez, Miryam
          Rojas, Winston
          Bedoya-Berrío, Gabriel
        affil:
          Instituto Colombiano de Medicina Tropical-Universidad CES, Medellín, Colombia
          Grupo GENMOL, Universidad de Antioquia, Medellín, Colombia
      su:
        Hansen's disease patients
        Single nucleotide polymorphisms
        Genetic code
        Cytokines
        Immune response
        Genetic transcription
        Control groups
      sug:
        subj:
          Hansen's disease patients
          Single nucleotide polymorphisms
          Genetic code
          Cytokines
          Immune response
          Genetic transcription
          Control groups
      keyword:
        cytokines
        genetic
        Leprosy
        nterleukin-10
        polymorphism
        promoter regions
        single nucleotide.
        citocinas
        interleucina-10
        lepra
        polimorfismo de nucleótido simple
        regiones promotoras genéticas
      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.
        Introducción. Se han reportado polimorfismos en los genes promotores que codifican para citocinas y que afectan los niveles de transcripción, con implicaciones clínicas y funcionales en pacientes con lepra. Objetivo. Detectar los polimorfismos en el gen promotor de la interleucina 10 (IL-10), de los polimorfismos de un solo nucleótido (Single Nucleotide Polymorphisms, SNP) -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=1 x 10, y OR=6,25, p=5 x 10, respectivamente. Estos haplotipos en condiciones de homocigoto, están también asociados con lepra: -819C-519C/-819C-519C (OR=4,34 p=1 x 10), -1082A -819C-592C/-1082A -819C-592C (OR=1,90 y 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=1 x 10); de igual manera, los genotipos C/C y C/A en el SNP -592 mostraron asociación (OR=4,34, p=1 x 10). Conclusiones. El haplotipo que encontramos asociado con lepra, -1082A-819C-592C/-1082A-819C- 592C, se ha relacionado con baja producción de IL-10. Funcionalmente, esta baja producción de IL-10 puede tener consecuencias en la respuesta inmunitaria, además de implicaciones clĺnicas. Se han reportado diferentes haplotipos de IL-10 como marcadores de vulnerabilidad y resistencia de lepra en otras poblaciones, lo cual sugiere que las diferencias en la distribución de diversos polimorfismos del gen de IL-10 entre grupos étnicos, es un factor importante al determinar la asociación entre enfermedad y genes.
      pubtype: Academic Journal
      doctype: Article
      src: R
    language: English
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