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Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis 期刊论文

编号：

379c575c-a003-4fb5-8d83-08f2a6591a05
作者：

Zhu, Zezhang(朱泽章)#^[1,2,3]Xu, Leilei^[1,2,3];Tang, Nelson LeungSang^[2,3,4,5,6];Qin, Xiaodong^[1,2,3];Feng, Zhenhua^[1,2,3];Sun, Weixiang^[1,2,3];Zhu, Weiguo^[1,2,3];Shi, Benlong^[1];Liu, Peng(刘鹏)^[7]Mao, Saihu^[1,2,3];Qiao, Jun^[1];Liu, Zhen^[1];Sun, Xu^[1];Li, Fangcai^[8];Cheng, Jack ChunYiu^[2,3,9];Qiu, Yong(邱勇)*^[1,2,3]
语种：

英文
期刊：

HUMAN MOLECULAR GENETICS ISSN：0964-6906 2017 年 26 卷 8 期 (1577 - 1583) ; APR 15
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摘要：

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 (P-combined = 1.19 x 10(-13), OR = 1.21, 95% CI = 1.10-1.32), rs7633294 at 3p14.1 near MAGI1 (P-combined = 1.85 X 10(-12), OR = 1.20, 95% CI = 1.09-1.32), and rs9810566 at 3q26.2 near TNIK (P-combined = 1.14 x 10(-11), OR = 1.19, 95% CI = 1.08-1.32). We also confirmed a recently reported region associated with AIS at 20p11.22 (P-combined - 1.61 x 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.
推荐引用方式
GB/T 7714：

Zhu Zezhang,Xu Leilei,Tang Nelson Leung-Sang, et al. Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis [J].HUMAN MOLECULAR GENETICS,2017,26(8):1577-1583.
APA：

Zhu Zezhang,Xu Leilei,Tang Nelson Leung-Sang,Qin Xiaodong,&Qiu Yong.(2017).Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis .HUMAN MOLECULAR GENETICS,26(8):1577-1583.
MLA：

Zhu Zezhang, et al. "Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis" .HUMAN MOLECULAR GENETICS 26,8(2017):1577-1583.
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