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

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 (O...

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Autores principales:	Leilei Xu, Zhenhua Feng, Zhicheng Dai, Wayne Y. W. Lee, Zhichong Wu, Zhen Liu, Xu Sun, Nelson Tang, Jack Chun-Yiu Cheng, Yong Qiu, Zezhang Zhu
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	gene variant LBX1 gene adolescent idiopathic scoliosis (AIS) myogenesis paraspinal muscle Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/20fc9b81b1a04d438c3e7eda83557c61
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spelling	oai:doaj.org-article:20fc9b81b1a04d438c3e7eda83557c612021-12-01T20:30:41ZA Functional SNP in the Promoter of LBX1 Is Associated With the Development of Adolescent Idiopathic Scoliosis Through Involvement in the Myogenesis of Paraspinal Muscles2296-634X10.3389/fcell.2021.777890https://doaj.org/article/20fc9b81b1a04d438c3e7eda83557c612021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fcell.2021.777890/fullhttps://doaj.org/toc/2296-634XPrevious 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.Leilei XuLeilei XuZhenhua FengZhenhua FengZhicheng DaiZhicheng DaiWayne Y. W. LeeWayne Y. W. LeeWayne Y. W. LeeZhichong WuZhichong WuZhen LiuZhen LiuXu SunXu SunNelson TangNelson TangNelson TangJack Chun-Yiu ChengJack Chun-Yiu ChengYong QiuYong QiuZezhang ZhuZezhang ZhuFrontiers Media S.A.articlegene variantLBX1 geneadolescent idiopathic scoliosis (AIS)myogenesisparaspinal muscleBiology (General)QH301-705.5ENFrontiers in Cell and Developmental Biology, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	gene variant LBX1 gene adolescent idiopathic scoliosis (AIS) myogenesis paraspinal muscle Biology (General) QH301-705.5
spellingShingle	gene variant LBX1 gene adolescent idiopathic scoliosis (AIS) myogenesis paraspinal muscle Biology (General) QH301-705.5 Leilei Xu Leilei Xu Zhenhua Feng Zhenhua Feng Zhicheng Dai Zhicheng Dai Wayne Y. W. Lee Wayne Y. W. Lee Wayne Y. W. Lee Zhichong Wu Zhichong Wu Zhen Liu Zhen Liu Xu Sun Xu Sun Nelson Tang Nelson Tang Nelson Tang Jack Chun-Yiu Cheng Jack Chun-Yiu Cheng Yong Qiu Yong Qiu Zezhang Zhu Zezhang Zhu 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
description	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.
format	article
author	Leilei Xu Leilei Xu Zhenhua Feng Zhenhua Feng Zhicheng Dai Zhicheng Dai Wayne Y. W. Lee Wayne Y. W. Lee Wayne Y. W. Lee Zhichong Wu Zhichong Wu Zhen Liu Zhen Liu Xu Sun Xu Sun Nelson Tang Nelson Tang Nelson Tang Jack Chun-Yiu Cheng Jack Chun-Yiu Cheng Yong Qiu Yong Qiu Zezhang Zhu Zezhang Zhu
author_facet	Leilei Xu Leilei Xu Zhenhua Feng Zhenhua Feng Zhicheng Dai Zhicheng Dai Wayne Y. W. Lee Wayne Y. W. Lee Wayne Y. W. Lee Zhichong Wu Zhichong Wu Zhen Liu Zhen Liu Xu Sun Xu Sun Nelson Tang Nelson Tang Nelson Tang Jack Chun-Yiu Cheng Jack Chun-Yiu Cheng Yong Qiu Yong Qiu Zezhang Zhu Zezhang Zhu
author_sort	Leilei Xu
title	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
title_short	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
title_full	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
title_fullStr	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
title_full_unstemmed	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
title_sort	functional snp in the promoter of lbx1 is associated with the development of adolescent idiopathic scoliosis through involvement in the myogenesis of paraspinal muscles
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/20fc9b81b1a04d438c3e7eda83557c61
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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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