| 青少年特发性脊柱侧凸的遗传机制研究现状及基因关系图 |
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投稿时间：2014-12-20
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| 作者 | Author | 单位 | Address | E-Mail |
| 王伟 |
WANG Wei |
复旦大学生命科学学院现代人类学教育部重点实验室, 上海 200438 |
Department of Orthopaedics, Changzheng Hospital, the Second Military Medical University, Shanghai 200003, China |
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| 马君 |
MA Jun |
第二军医大学上海长征医院骨科, 上海 200003 |
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| 李淑元 |
LI Shu-yuan |
复旦大学生命科学学院现代人类学教育部重点实验室, 上海 200438 |
Department of Orthopaedics, Changzheng Hospital, the Second Military Medical University, Shanghai 200003, China |
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| 吴娴 |
WU Xian |
复旦大学生命科学学院现代人类学教育部重点实验室, 上海 200438 |
Department of Orthopaedics, Changzheng Hospital, the Second Military Medical University, Shanghai 200003, China |
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| 胡斌 |
HU Bin |
复旦大学生命科学学院现代人类学教育部重点实验室, 上海 200438 |
Department of Orthopaedics, Changzheng Hospital, the Second Military Medical University, Shanghai 200003, China |
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| 王笑峰 |
WANG Xiao-feng |
复旦大学生命科学学院现代人类学教育部重点实验室, 上海 200438 |
Department of Orthopaedics, Changzheng Hospital, the Second Military Medical University, Shanghai 200003, China |
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| 周许辉 |
ZHOU Xu-hui |
第二军医大学上海长征医院骨科, 上海 200003 |
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shanghaizhouxuhui@163.com |
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| 期刊信息：《中国骨伤》2015年，第28卷，第9期，第854-860页 |
| DOI：10.3969/j.issn.1003-0034.2015.09.016 |
| 基金项目:上海市浦江人才计划资助项目(编号:2005171) |
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| 中文摘要:作为青少年特发性脊柱侧凸(AIS)发病的研究热点,遗传机制探索经过候选基因及全基因组关联研究(GWAS)时代后,初步鉴定一些相关基因.综述AIS相关基因研究现状,并初步构建AIS基因关系网络图.在NCBI-Pubmed数据库和Web of Science中检索“adolescent idiopathic scoliosis”和“gene”,分类归纳基因.用String-db构建基因关系图.共识别35个AIS相关基因,将其按病因学假设可分为结缔组织、神经系统活性物质、褪黑素合成与代谢、青春期与生长及功能未知.大部分基因呈现网络关系,其中IL6、ESR1、ESR2、VDR、TGFB1、IGF1可能是AIS遗传机制的重要基因.3个GWAS位点有两个在网络之外,提示新通路.AIS易感基因研究尚初步,需要深入研究,解析机制,鉴定新网络. |
| 【关键词】脊柱侧凸 青少年 遗传 基因 |
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| Advance on genetic mechanism of adolescent idiopathic scoliosis and genetic relationship map |
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| ABSTRACT Identification of genetic risk factors is the hotspot of adolescent idiopathic scoliosis (AIS). Through candidate gene approach and genome-wide association studies (GWAS), some genes were preliminary identified. To review AIS related genes, and construct the gene network map of AIS gene. We searched on NCBI PubMed and Web of Science database using search terms “adolescent idiopathic scoliosis” and “gene”, to classify induction genes. We then constructed gene diagram using string-db. We found 35 AIS genes relating to connective tissue, nervous system active substances, melatonin synthesis and metabolism, puberty and growth, and genes whose function is unknown. Gene diagram shows that a network relationship between gene and other genes, in which IL6, ESR1, ESR2, VDR, TGFB1, IGF1 gene may as the key gene about AIS' genetic mechanism. Two sites of 3 GWAS results outside the network, it is suggesting new pathway that need to be explored. The study about AIS susceptibility gene is still preliminary, requiring in-depth research to identify the new networks. |
| KEY WORDS Scoliosis Adolescent Heredity Genes |
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| 引用本文，请按以下格式著录参考文献： |
| 中文格式: | 王伟,马君,李淑元,吴娴,胡斌,王笑峰,周许辉.青少年特发性脊柱侧凸的遗传机制研究现状及基因关系图[J].中国骨伤,2015,28(9):854~860 |
| 英文格式: | WANG Wei,MA Jun,LI Shu-yuan,WU Xian,HU Bin,WANG Xiao-feng,ZHOU Xu-hui.Advance on genetic mechanism of adolescent idiopathic scoliosis and genetic relationship map[J].zhongguo gu shang / China J Orthop Trauma ,2015,28(9):854~860 |
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