BoneKEy Reports | BoneKEy Watch
New susceptibility loci for ankylosing spondylitis (AS) identified
DOI:10.1038/bonekey.2012.35
The results of a genome-wide association study (GWAS) in Europeans with ankylosing spondylitis (AS) was reported recently. Now, Lin et al. have performed a GWAS in Han Chinese by genotyping 1965 people confirmed to have AS by radiography, and comparing them to 4301 controls. They discovered two new susceptibility loci for AS; HAPLN1-EDIL3 at 5q14.3 and ANO6 at 12q12.
Several significant associations were also observed within MHC region 6p21 (HLA-B), the strongest being at rs132024464. The group also confirmed associations with rs10865331 within region 2p15 and conclude that the link between the MHC locus and AS is consistent with other studies that have been carried out on Chinese and European populations.
This is the first study to find AS susceptibility loci close to genes that are known to be involved in bone formation and cartilage development; this suggests a mechanism for the genetic component of AS and may help explain why inflammation and new bone formation seem to be independent processes in the disease.
Editor's comment: This study identifies two new susceptibility loci at 5q14.3 and at 12q12, and confirms previously reported associations in Europeans. The two newly discovered loci implicate genes related to bone formation and cartilage development and may form future targets for the development of novel therapeutics.
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