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Interleukin - 6 promoter polymorphisms at -597, -572 and -174Interleukin - 6 (IL6) plays key roles in hematopoiesis, immune, and acute phase responses. Dysregulated IL6 expression is implicated in diseases such as atherosclerosis and arthritis. The interleukin-6 gene possesses promoter polymorphisms G-597A, G-572C and G-174C in partial linkage dysequilibrium which affect the transcription of the interleukin-6 gene and the production of interleukin-6 protein. In vitro activity studies by transient transfection of promoter-reporter gene constructs into an endothelial-like cell line yielded the following haplotype / phenotype correlations (1) :
Thus, in most cases the G-174 allele is associated with high IL-6 production. A variety of clinical situations have been studied in relationship with the G-174 allele and the other polymorphisms in the IL-6 gene promoter (see reference table below). References (1) Terry CF, Loukaci V, Green FR. Cooperative influence of genetic polymorphisms on interleukin 6 transcriptional regulation. J Biol Chem 2000 Jun 16;275(24):18138-44 (PMID: 10747905)<Abstract>
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