The interleukin-10-1082 G/A polymorphism: allele frequency in different populations and functional significance.
Cell Mol Life Sci
; 59(3): 560-9, 2002 Mar.
Article
em En
| MEDLINE
| ID: mdl-11964134
ABSTRACT
Genotypic variation in the human interleukin-10 (IL-10) promoter may account for marked inter-individual variation in IL-10 production and may influence susceptibility to autoimmune diseases. The G/A polymorphism at position -1082 has been linked to high/low IL-10 producer status. We directly tested the functional significance of this polymorphism using DNA-binding assays and reporter gene assays, examined allele frequencies in two geographically distinct populations and assessed intra- and inter-individual variation in IL-10 production in vitro according to genotype. Functional analyses showed that the -1082 region contains a putative ETS-like transcription factor-binding site, and nuclear factors from a monocyte cell line bind to this region. Transient transfection studies in an Epstein-Barr virus-transformed B cell line indicated that the -1082 A allele confers a two fold increase in transcriptional activity of the IL-10 promoter compared to the G allele. There was marked inter-individual variation in IL-10 production by peripheral blood mononuclear cells in vitro, with no consistent effect of genotype.
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Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Regulação da Expressão Gênica
/
Regiões Promotoras Genéticas
/
Interleucina-10
/
Frequência do Gene
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article