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http://purl.uniprot.org/citations/22312160http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/22312160http://www.w3.org/2000/01/rdf-schema#comment"

Objective

Spondyloarthritis is a group of articular disorders sharing a genetic background. Polymorphisms in the IL-1 gene cluster have previously been associated with ankylosing spondylitis (AS), a subset of spondyloarthritis. This study examined the association between several of these polymorphisms and the whole spondyloarthritis. Particular attention was devoted to genotype-phenotype correlations.

Methods

Seven single-nucleotide polymorphisms (SNP) and a variable number tandem repeat located in the IL-1 gene cluster were genotyped in 185 independent spondyloarthritis trios. Family-based association test (FBAT) was computed using the FBAT software. Analysis was carried in spondyloarthritis as a whole and also in AS. A case-control replication study was performed for four of the SNP, in an independent sample of 414 spondyloarthritis and 264 controls. A combined analysis of both studies was performed.

Results

The SNP rs2856836 in IL1A was significantly associated with spondyloarthritis (p=0.009) and AS (p=0.010) in the family study. The case-control study revealed an association between another IL1A variant (rs1894399) and AS (p=0.035), and between IL1F10.3 (rs3811058) and spondyloarthritis (p=0.041). By combining family and case-control studies an association between AS and IL1A was confirmed (rs1894399, p=0.024), whereas non-AS was more significantly associated with IL1F10.3 (p=0.0043). Family-based and case-control studies revealed significant association between the two most frequent haplotypes combining the four SNP of the replication study and both spondyloarthritis (p=0.0054 and p=0.038) and AS phenotypes (p=0.018 and 0.0036).

Conclusion

This study is the first to demonstrate an association between several polymorphisms located in the IL-1 gene cluster and spondyloarthritis as a whole. The IL1A locus was strongly associated with AS phenotype, whereas IL1F10 was associated with non-AS."xsd:string
http://purl.uniprot.org/citations/22312160http://purl.org/dc/terms/identifier"doi:10.1136/annrheumdis-2011-200439"xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/author"Letourneur F."xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/author"Lebrun N."xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/author"Zinovieva E."xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/author"Chiocchia G."xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/author"Breban M."xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/author"Said-Nahal R."xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/author"Izac B."xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/author"Kadi A."xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/author"Monnet D."xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/date"2012"xsd:gYear
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/name"Ann Rheum Dis"xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/pages"885-890"xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/title"Association between the IL-1 family gene cluster and spondyloarthritis."xsd:string
http://purl.uniprot.org/citations/22312160http://purl.uniprot.org/core/volume"71"xsd:string
http://purl.uniprot.org/citations/22312160http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/22312160
http://purl.uniprot.org/citations/22312160http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/22312160
http://purl.uniprot.org/uniprot/#_A0A510GAG5-mappedCitation-22312160http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22312160
http://purl.uniprot.org/uniprot/#_A0AA51YZX7-mappedCitation-22312160http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22312160
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