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

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Japan Scoliosis Clinical Res Grp & Texas Scottish Rite Hosp Children 2018 , ' An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis ' , Scientific Reports , vol. 8 , 4730 . https://doi.org/10.1038/s41598-018-22552-x

Title: An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis
Author: Japan Scoliosis Clinical Res Grp; Texas Scottish Rite Hosp Children
Date: 2018-03-16
Language: eng
Number of pages: 7
Belongs to series: Scientific Reports
ISSN: 2045-2322
URI: http://hdl.handle.net/10138/234456
Abstract: 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 x 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.
Subject: GENOME-WIDE ASSOCIATION
GENOTYPE IMPUTATION
LBX1
SUSCEPTIBILITY
VARIANTS
HISTORY
GENE
SNP
3111 Biomedicine
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