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- Title
Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis.
- Authors
Zezhang Zhu; Leilei Xu; Nelson Leung-Sang Tang; Xiaodong Qin; Zhenhua Feng; Weixiang Sun; Weiguo Zhu; Benlong Shi; Peng Liu; Saihu Mao; Jun Qiao; Zhen Liu; Xu Sun; Fangcai Li; Jack Chun-Yiu Cheng; Yong Qiu
- Abstract
The genetic architecture of adolescent idiopathic scoliosis (AIS) remains poorly understood. Here we present the result of a 4-stage genome-wide association study composed of 5,953 AIS patients and 8,137 controls. Overall, we identified three novel susceptible loci including rs7593846 at 2p14 near MEIS1 (Pcombined=1.19 × 10-13, OR=1.21, 95% CI=1.10-1.32), rs7633294 at 3p14.1 near MAGI1 (Pcombined=1.85 × 10-12, OR=1.20, 95% CI=1.09-1.32), and rs9810566 at 3q26.2 near TNIK (Pcombined=1.14 × 10-11, OR=1.19, 95% CI=1.08-1.32). We also confirmed a recently reported region associated with AIS at 20p11.22 (Pcombined=1.61 × 10-15, OR=1.22, 95% CI=1.12-1.34). Furthermore, we observed significantly asymmetric expression of Wnt/beta-catenin pathway in the bilateral paraspinal muscle of AIS patients, including beta-catenin, TNIK, and LBX1. This is the first study that unveils the potential role of Wnt/beta-catenin pathway in the development of AIS, and our findings may shed new light on the etiopathogenesis of AIS.
- Publication
Human Molecular Genetics, 2017, Vol 26, Issue 8, p1577
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/ddx045