The genetics of spondyloarthropathies

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• 作者：Maxime Breban ; Corinne Miceli-Richard ; Elena Zinovieva ; Dominique Monnet and Roula Said-Nahal
• 关键词：Genetics ; Spondyloarthropathy ; Ankylosing spondylitis
• 刊名：Joint Bone Spine
• 出版年：2006
• 出版时间：July 2006
• 年：2006
• 卷：73
• 期：4
• 页码：355-362
• 全文大小：187 K

文摘

The spondyloarthropathies constitute a group of inflammatory joint diseases linked by shared characteristics that include a strong common genetic background. Genetic factors include major histocompatibility complex (MHC) genes, among which HLA-B27 contributes 30 % of the overall genetic susceptibility to spondyloarthropathies, and non-MHC genes, none of which have been identified to date. Genome screens have identified regions that may contain susceptibility genes for spondyloarthropathies. In particular, a locus on the long arm of chromosome 9 (9q31-34) was identified by two groups working independently from each other. Studies using the candidate gene approach ruled out a role for most of the tested genes, including CARD15/NOD2. However, several independent groups have reported significant associations between ankylosing spondylitis and the IL-1 gene cluster on the long arm of chromosome 2.