The genetics of spondyloarthropathies.
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.
Breban
Maxime
M
Département d'immunologie, institut Cochin, Inserm U567/CNRS UMR8104/IFR116, hôpital Cochin, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France. maxime.breban@apr.aphp.fr
Miceli-Richard
Corinne
C
Zinovieva
Elena
E
Monnet
Dominique
D
Said-Nahal
Roula
R
D020022:Genetic Predisposition to Disease; D015796:HLA-B27 Antigen / Q000235:genetics; D006801:Humans; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics; D010641:Phenotype; D012307:Risk Factors; D025242:Spondylarthropathies / Q000235:genetics*
D015796:HLA-B27 Antigen; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein