title: Novel IL-6 haplotypes and disease association.
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.
authors.affiliation: Pediatric and Adolescent Rheumatology, University College London, UK. m.fife@ucl.ac.uk
authors.forename: M S
authors.initials: MS
authors.lastname: Fife
authors.forename: E M
authors.initials: EM
authors.lastname: Ogilvie
authors.forename: D
authors.initials: D
authors.lastname: Kelberman
authors.forename: J
authors.initials: J
authors.lastname: Samuel
authors.forename: A
authors.initials: A
authors.lastname: Gutierrez
authors.forename: S E
authors.initials: SE
authors.lastname: Humphries
authors.forename: P
authors.initials: P
authors.lastname: Woo
mesh_terms: D001171:Arthritis, Juvenile / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: D015850:Interleukin-6