IBMS BoneKEy | BoneKEy Watch
Zhu et al. New susceptibility loci for adolescent idiopathic scoliosis
DOI:10.1038/bonekey.2016.8
Millions of children develop spine deformity due to adolescent idiopathic scoliosis (AIS). Despite the prevalence of AIS, which can be as high as 4%, we are only just beginning to understand the genetics of this complex disease. In this study, Zhu and colleagues performed a genome-wide association study (GWAS) in four stages, comparing 4317 AIS patients with 6016 controls. Itis the first such GWAS to be carried out in the Chinese population.
They identified three new susceptibility loci: one near AJAP1 (the gene encoding adherens junctions associated protein 1, which could be important in cell adhesion, invasion and migration), one between PAX3 (paired box 3) and EPHA4 (ephrin type A receptor 4, implicated in the mediation of key developmental events), and one near BCL2 (B-cell lymphoma 2; a mitochondrial protein important in apoptosis and that may play a role in regulating endochondral ossification). In addition, they confirmed a previously reported region at 10q24.32, where LBX1AS1, encoding an antisense transcript of LBX1, is mapped. The authors suggest that this could represent a functional variant of AIS.
Editor’s comment: Another recent GWAS discovered that a locus close to the gene PAX1, which encodes paired box 1, is associated with sexually dimorphic AIS susceptibility. We should therefore stay tuned for mega-GWAS analysis to be performed by several AIS groups, to confirm the above and to identify additional candidate loci.
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