A Functional SNP in the Promoter of LBX1 Is Associated With the Development of Adolescent Idiopathic Scoliosis Through Involvement in the Myogenesis of Paraspinal Muscles.
A Functional SNP in the Promoter of LBX1 Is Associated With the Development of Adolescent Idiopathic Scoliosis Through Involvement in the Myogenesis of Paraspinal Muscles.
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LBX1 启动子中的功能性 SNP 通过参与椎旁肌肉的肌生成与青少年特发性脊柱侧弯的发展相关
DOI：
10.3389/fcell.2021.777890
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发表时间：
2021
影响因子：
5.5
通讯作者：
Zhu Z
中科院分区：
文献类型：
--
作者：
Xu L;Feng Z;Dai Z;Lee WYW;Wu Z;Liu Z;Sun X;Tang N;Cheng JC;Qiu Y;Zhu Z
先前的研究表明，LBX 1与多个人群中的青少年特发性脊柱侧凸（AIS）相关。在中国人群中，首次发现位于LBX 1推定启动子区域的rs 1322330与AIS显著相关[p = 6.08 × 10-14，比值比（OR）= 1.42，95%置信区间为1.03-1.55]。荧光素酶分析和电泳迁移率变动分析结果均支持rs 1322330等位基因A下调AIS椎旁肌LBX 1的表达。此外，在肌卫星细胞中沉默LBX 1导致细胞活力和肌管形成显著抑制，这支持了LBX 1在AIS肌肉发育中的重要作用。综上所述，rs 1322330可能是一个新的功能性SNP，其调控LBX 1的表达，LBX 1可能通过调控椎旁肌的肌生成而参与AIS的病因学。
Previous studies have shown that LBX1 is associated with adolescent idiopathic scoliosis (AIS) in multiple populations. For the first time, rs1322330 located in the putative promoter region of LBX1 was found significantly associated with AIS in the Chinese population [p = 6.08 × 10–14, odds ratio (OR) = 1.42, 95% confidence interval of 1.03–1.55]. Moreover, the luciferase assay and electrophoretic mobility shift assay supported that the allele A of rs1322330 could down-regulate the expression of LBX1 in the paraspinal muscles of AIS. In addition, silencing LBX1 in the myosatellite cells resulted in significantly inhibited cell viability and myotube formation, which supported an essential role of LBX1 in muscle development of AIS. To summarize, rs1322330 may be a novel functional SNP regulating the expression of LBX1, which was involved in the etiology of AIS possibly via regulation of myogenesis in the paraspinal muscles.
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影响因子：
4.5
作者：
Guo L;Yamashita H;Kou I;Takimoto A;Meguro-Horike M;Horike S;Sakuma T;Miura S;Adachi T;Yamamoto T;Ikegawa S;Hiraki Y;Shukunami C
通讯作者：
Shukunami C
影响因子：
3
作者：
Miller, NH;Justice, CM;Wilson, AF
通讯作者：
Wilson, AF
影响因子：
3
作者：
Inoue, M;Minami, S;Moriya, H
通讯作者：
Moriya, H
DOI：
10.5606/tftrd.2019.2825
发表时间：
2019-01-01
影响因子：
1.3
作者：
Sahin, Fusun;Urak, Ozkan;Akkaya, Nuray
通讯作者：
Akkaya, Nuray
影响因子：
3.3
作者：
Hopker, James G.;Coleman, Damian A.;Passfield, Louis
通讯作者：
Passfield, Louis