An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis

• Published in: Scientific reports Vol. 8; no. 1; pp. 4730 - 7
• Main Authors: Ogura, Yoji, Takeda, Kazuki, Kou, Ikuyo, Khanshour, Anas, Grauers, Anna, Zhou, Hang, Liu, Gang, Fan, Yan-Hui, Zhou, Taifeng, Wu, Zhihong, Takahashi, Yohei, Matsumoto, Morio, Einarsdottir, Elisabet, Kere, Juha, Huang, Dongsheng, Qiu, Guixing, Xu, Leilei, Qiu, Yong, Wise, Carol A., Song, You-Qiang, Wu, Nan, Su, Peiqiang, Gerdhem, Paul, Watanabe, Kota, Ikegawa, Shiro
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 16.03.2018; Nature Publishing Group
• Subjects: 45/43; 631/208/205/2138; 631/208/212/2301; Adolescents; Chromosome 9; Genome-wide association studies; Genomes; Humanities and Social Sciences; Klinisk medicin; Medicin och hälsovetenskap; Medicinsk genetik; Medicinska och farmaceutiska grundvetenskaper; Meta-analysis; Minority & ethnic groups; multidisciplinary; Ortopedi; Population studies; Science; Science (multidisciplinary); Scoliosis
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-018-22552-x

Adolescent idiopathic scoliosis (AIS) is a common spinal deformity with the prevalence of approximately 3%. We previously conducted a genome-wide association study (GWAS) using a Japanese cohort and identified a novel locus on chromosome 9p22.2. However, a replication study using multi-population cohorts has not been conducted. To confirm the association of 9p22.2 locus with AIS in multi-ethnic populations, we conducted international meta-analysis using eight cohorts. In total, we analyzed 8,756 cases and 27,822 controls. The analysis showed a convincing evidence of association between rs3904778 and AIS. Seven out of eight cohorts had significant P value, and remaining one cohort also had the same trend as the seven. The combined P was 3.28 × 10 −18 (odds ratio = 1.19, 95% confidence interval = 1.14–1.24). In silico analyses suggested that BNC2 is the AIS susceptibility gene in this locus.