A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them is a locus on chromosome 6q24.1 that we identified by a GWAS in a...

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Detalles Bibliográficos
Autores principales: Kou, Ikuyo, Watanabe, Kota, Takahashi, Yohei, Momozawa, Yukihide, Khanshour, Anas, Grauers, Anna, Zhou, Hang, Liu, Gang, Fan, Yan-Hui, Takeda, Kazuki, Ogura, Yoji, Zhou, Taifeng, Iwasaki, Yusuke, Kubo, Michiaki, Wu, Zhihong, Matsumoto, Morio, Einarsdottir, Elisabet, Kere, Juha, Huang, Dongsheng, Qiu, Guixing, Qiu, Yong, Wise, Carol A., Song, You-Qiang, Wu, Nan, Su, Peiqiang, Gerdhem, Paul, Ikegawa, Shiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070519/
https://www.ncbi.nlm.nih.gov/pubmed/30069010
http://dx.doi.org/10.1038/s41598-018-29011-7
Descripción
Sumario:Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them is a locus on chromosome 6q24.1 that we identified by a GWAS in a Japanese cohort. The locus is represented by rs6570507 located within GPR126. To ensure the association of rs6570507 with AIS, we conducted a meta-analysis using eight cohorts from East Asia, Northern Europe and USA. The analysis included a total of 6,873 cases and 38,916 controls and yielded significant association (combined P = 2.95 × 10(−20); odds ratio = 1.22), providing convincing evidence of the worldwide association between rs6570507 and AIS susceptibility. In silico analyses strongly suggested that GPR126 is a susceptibility gene at this locus.

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