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- Ogura, Y (author)
An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis
- Article/chapterEnglish2018
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- 2018-03-16
- Springer Science and Business Media LLC,2018
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- LIBRIS-ID:oai:prod.swepub.kib.ki.se:137851405
- http://kipublications.ki.se/Default.aspx?queryparsed=id:137851405URI
- https://doi.org/10.1038/s41598-018-22552-xDOI
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- Language:English
- Summary in:English
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- 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.
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- Takeda, K (author)
- Kou, I (author)
- Khanshour, A (author)
- Grauers, A (author)
- Zhou, H (author)
- Liu, G (author)
- Fan, YH (author)
- Zhou, TF (author)
- Wu, ZH (author)
- Takahashi, Y (author)
- Matsumoto, M (author)
- Einarsdottir, EKarolinska Institutet (author)
- Kere, JKarolinska Institutet (author)
- Huang, DS (author)
- Qiu, GX (author)
- Xu, LL (author)
- Qiu, Y (author)
- Wise, CA (author)
- Song, YQ (author)
- Wu, N (author)
- Su, PQ (author)
- Gerdhem, PKarolinska Institutet (author)
- Watanabe, K (author)
- Ikegawa, S (author)
- Karolinska Institutet (creator_code:org_t)
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- In:Scientific reports: Springer Science and Business Media LLC8:1, s. 4730-2045-2322
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- Liu, G
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- Zhou, TF
- Wu, ZH
- Takahashi, Y
- Matsumoto, M
- Einarsdottir, E
- Kere, J
- Huang, DS
- Qiu, GX
- Xu, LL
- Qiu, Y
- Wise, CA
- Song, YQ
- Wu, N
- Su, PQ
- Gerdhem, P
- Watanabe, K
- Ikegawa, S
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