AI Article Synopsis
- Adolescent idiopathic scoliosis (AIS) affects around 3% of adolescents, and a previous study identified a genetic locus on chromosome 9p22.2 linked to AIS in a Japanese population.
- A new international meta-analysis was conducted using data from eight different cohorts to test the association of this locus across diverse ethnic groups, analyzing data from 8,756 AIS cases and 27,822 controls.
- The results indicated a strong association between the genetic variant rs3904778 and AIS, with significant findings in seven out of eight cohorts, suggesting that the BNC2 gene may be responsible for susceptibility to AIS.
Article 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 × 10 (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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856832 | PMC |
| http://dx.doi.org/10.1038/s41598-018-22552-x | DOI Listing |
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