title: Interleukin 1 gene cluster polymorphisms in multiplex families with spondylarthropathies.
abstract: Interleukin 1alpha (IL-1alpha) has been implicated in the pathogenesis of infectious, auto-immune and inflammatory diseases. Polymorphisms in the genes encoding IL-1alpha, IL-1beta and the IL-1 receptor antagonist (ILRN) molecules have been associated with several inflammatory diseases. As the marker D2S160 has been characterized as a candidate locus for Ankylosing Spondylitis (AS) after a genome-wide scan, and since this locus is located approximately 0.3 cM telomeric to the IL-1 gene cluster, we hypothesized that these cytokines might be good candidates for Spondylarthropathies (SpA). Therefore we tested this hypothesis using the transmission disequilibrium test (TDT) in 37 families representing 217 subjects from three intragenic IL-1 gene cluster polymorphisms, the IL1B Taq I, the ILRN 2nd intron, and the IL1A Nco I, taking HLA B27 status into account or not. In conclusion, by means of intra-familial TDT analysis we found no linkage or intra-familial association between SpA and the three IL-1 gene-cluster polymorphisms in SpA multiplex family material.
authors.affiliation: EMI 00-05, Institut Cochin de Génétique Moléculaire, CHU Cochin, 24 rue du Fg St Jacques, 75014 Paris, France.
authors.forename: K
authors.initials: K
authors.lastname: Djouadi
authors.forename: B
authors.initials: B
authors.lastname: Nedelec
authors.forename: R
authors.initials: R
authors.lastname: Tamouza
authors.forename: E
authors.initials: E
authors.lastname: Genin
authors.forename: R
authors.initials: R
authors.lastname: Ramasawmy
authors.forename: D
authors.initials: D
authors.lastname: Charron
authors.forename: M
authors.initials: M
authors.lastname: Delpech
authors.forename: S
authors.initials: S
authors.lastname: Laoussadi
mesh_terms: D000328:Adult; D000483:Alleles; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007375:Interleukin-1 / Q000235:genetics*; D007438:Introns; D015810:Linkage Disequilibrium; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D005810:Multigene Family; D010641:Phenotype; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D017472:Receptors, Interleukin-1 / Q000037:antagonists & inhibitors; D013166:Spondylitis / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D007375:Interleukin-1; D017472:Receptors, Interleukin-1