Genetic variant of BNC2 gene is functionally associated with adolescent idiopathic scoliosis in Chinese population
Genetic variant of BNC2 gene is functionally associated with adolescent idiopathic scoliosis in Chinese population
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BNC2基因的遗传变异与中国人群青少年特发性脊柱侧弯存在功能相关性
DOI：
10.1007/s00438-017-1315-3
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发表时间：
2017-03
影响因子：
3.1
通讯作者：
Zhu Zezhang
中科院分区：
文献类型：
--
作者：
Xu Leilei;Xia Chao;Qin Xiaodong;Sun Weixiang;Tang Nelson Leung-Sang;Qiu Yong;Cheng Jack Chun-Yiu;Zhu Zezhang
青少年特发性脊柱侧凸（AIS）是一种脊柱结构弯曲，据估计全世界有数百万儿童受到影响。近期研究表明，功能变异rs10738445可通过调控BNC2基因增加AIS的风险。本研究旨在探讨中国人群中BNC2基因rs10738445是否为AIS的功能易感位点，进一步阐明BNC2表达与曲线严重程度的关系。SNP rs10738445在1952名患者和2492名对照中进行了基因分型，并在693名患者和254名对照中进一步重复。我们发现患者发生CC的频率明显高于对照组（一期21.9 vs. 17.7%,p= 0.004；二期12.6 vs. 7.9%,p= 0.03）。等位基因C显著增加AIS的风险，OR为1.14-1.24。发现AIS患者的BNC2表达明显高于对照组。BNC2表达与曲线严重程度显著相关（r= 0.316,p= 0.02）。总之，我们的研究表明BNC2在AIS脊柱畸形的发生和发展中具有功能作用。
Adolescent idiopathic scoliosis (AIS) is a structural curvature of the spine that was estimated to affect millions of children worldwide. Recent study shows that the functional variant rs10738445 could add to the risk of AIS through the regulation of BNC2 gene. This study aims to investigate whether the rs10738445 of BNC2 gene is a functional susceptible locus for AIS in the Chinese population and to further clarify the association of the BNC2 expression with the curve severity. SNP rs10738445 was genotyped in 1952 patients and 2492 controls, and further replicated in 693 patients and 254 controls. We found that patients have a significantly higher frequency of CC than the controls (21.9 vs. 17.7%,p= 0.004 for stage 1; 12.6 vs. 7.9%,p= 0.03 for stage 2). Allele C can significantly add to the risk of AIS with an OR of 1.14–1.24. AIS patients were found to have significantly higher BNC2 expression than the controls. The BNC2 expression was significantly correlated with the curve severity (r= 0.316,p= 0.02). In conclusion, our study suggests a functional role of BNC2 in the development and progression of the spinal deformity in AIS.
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DOI：
10.2106/00004623-195638010-00012
发表时间：
1956
期刊：
The Journal of bone and joint surgery. American volume
影响因子：
--
作者：
Gorton Ritchie;Francis G. Zeier
通讯作者：
Gorton Ritchie;Francis G. Zeier
DOI：
10.1002/jor.20885
发表时间：
2009-10
期刊：
Journal of orthopaedic research : official publication of the Orthopaedic Research Society
影响因子：
--
作者：
Raggio CL;Giampietro PF;Dobrin S;Zhao C;Dorshorst D;Ghebranious N;Weber JL;Blank RD
通讯作者：
Blank RD
DOI：
--
发表时间：
2015-04
期刊：
--
影响因子：
--
作者：
田原 康玄
通讯作者：
田原 康玄
影响因子：
3
作者：
Hongqi Zhang;Shi-jin Lu;Mingxing Tang;Ling-qiang Chen;ShaoHua Liu;Chaolei Guo;Xi-yang Wang;J. Chen;L. Xie
通讯作者：
Hongqi Zhang;Shi-jin Lu;Mingxing Tang;Ling-qiang Chen;ShaoHua Liu;Chaolei Guo;Xi-yang Wang;J. Chen;L. Xie
DOI：
--
发表时间：
1989
期刊：
Instructional course lectures
影响因子：
--
作者：
S. Weinstein
通讯作者：
S. Weinstein