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Novel IL-6 haplotypes and disease association

Fife, MS; Ogilvie, EM; Kelberman, D; Samuel, J; Gutierrez, A; Humphries, SE; Woo, P; (2005) Novel IL-6 haplotypes and disease association. GENES IMMUN , 6 (4) 367 - 370. 10.1038/sj.gene.6364186.

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Abstract

Interleukin-6 (IL-6) is a pleiotropic cytokine crucial in both adaptive and innate immunity. Numerous genetic studies have shown association with variants of this gene in a multitude of diseases and phenotypes. Most tests of association have focused on a limited set of promoter polymorphisms, in particular, the - 174G>C; however, there are many inconsistencies within and between these studies. We propose that there is a more complex regulatory haplotype extending further upstream of the previously characterised promoter region which will provide a more detailed view of the effect of variation on lL-6 regulation. We have exploited two additional single nucleotide polymorphisms ( SNPs) in IL-6 that, when examined as a haplotype with existing markers, show an increased level of association with systemic onset juvenile arthritis in a family-based study. This suggests that the haplotype effect may be more functionally relevant to the disease.

Type: Article
Title: Novel IL-6 haplotypes and disease association
DOI: 10.1038/sj.gene.6364186
Keywords: interleukin 6, polymorphism, association, systemic juvenile arthritis, INTERLEUKIN-6 GENE POLYMORPHISM, JUVENILE RHEUMATOID-ARTHRITIS, PROMOTER POLYMORPHISM, TRANSCRIPTIONAL REGULATION, SUSCEPTIBILITY, ALLELE, HUMANS, REGION, WOMEN, RISK
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Infection and Immunity
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Genetics and Genomic Medicine Prog
URI: http://discovery.ucl.ac.uk/id/eprint/133294
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