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单核苷酸多态性与青少年特发性脊柱侧凸的研究进展

赵云欣 孟繁媛 刘巍 吴会东 罗长良 李彬 敖丽娟 陈茉弦

赵云欣, 孟繁媛, 刘巍, 吴会东, 罗长良, 李彬, 敖丽娟, 陈茉弦. 单核苷酸多态性与青少年特发性脊柱侧凸的研究进展[J]. 昆明医科大学学报, 2022, 43(11): 156-164. doi: 10.12259/j.issn.2095-610X.S20221121
引用本文: 赵云欣, 孟繁媛, 刘巍, 吴会东, 罗长良, 李彬, 敖丽娟, 陈茉弦. 单核苷酸多态性与青少年特发性脊柱侧凸的研究进展[J]. 昆明医科大学学报, 2022, 43(11): 156-164. doi: 10.12259/j.issn.2095-610X.S20221121
Yunxin ZHAO, Fanyuan MENG, Wei LIU, Huidong WU, Changliang LUO, Bin LI, Lijuan AO, Moxian CHEN. Research Progress of Single Nucleotide Polymorphism and Adolescent Idiopathic Scoliosis[J]. Journal of Kunming Medical University, 2022, 43(11): 156-164. doi: 10.12259/j.issn.2095-610X.S20221121
Citation: Yunxin ZHAO, Fanyuan MENG, Wei LIU, Huidong WU, Changliang LUO, Bin LI, Lijuan AO, Moxian CHEN. Research Progress of Single Nucleotide Polymorphism and Adolescent Idiopathic Scoliosis[J]. Journal of Kunming Medical University, 2022, 43(11): 156-164. doi: 10.12259/j.issn.2095-610X.S20221121

单核苷酸多态性与青少年特发性脊柱侧凸的研究进展

doi: 10.12259/j.issn.2095-610X.S20221121
基金项目: 国家重点研发计划基金资助项目[2018YFC2001604];云南省基础研究计划(昆医联合专项)[2019FE001(-188) ];云南省科技厅-昆明医科大学应用基础研究联合专项[ (202201AY070001-014) ]
详细信息
    作者简介:

    赵云欣(1996~),女,山西运城人,医学硕士,初级康复治疗师,主要从事青少年脊柱侧凸相关工作

    通讯作者:

    陈茉弦,E-mail: chenmoxian@kmmu.edu.cn

  • 中图分类号: R394

Research Progress of Single Nucleotide Polymorphism and Adolescent Idiopathic Scoliosis

  • 摘要: 青少年特发性脊柱侧凸( adolescent idiopathic scoliosis,AIS)在全世界范围内的发病率为1%~3%,患病群体基数大,且给患者造成生理和心理的双重痛苦。大量研究表明,遗传因素可能在AIS的发生发展中起重要作用。单核苷酸多态性(single nucleotide polymorphisms,SNPs)与AIS相关性的研究成为近年来医学分子遗传学研究的重点。对AIS易感基因的SNPs进行深入研究,有助于探索AIS预防、诊断和治疗的新策略。就目前基因SNPs与AIS的相关性研究进展作一综述。
  • 表  1  ESR家族基因多态性与AIS易感性的关系

    Table  1.   The relationship between ESR family gene polymorphism and susceptibility to AIS

    作者 年份 国家 人种(病例组/正常组) 基因/SNP rs号(等位基因) 阳性/阴性关联
    Janusz等[6] 2013 波兰 白种人(287/182) ESR1/rs9340799(A/G)
    ESR1/rs2234693(T/C)
    阴性关联
    Takahashi等[7] 2011 日本 黄种人(798/637) ESR1/rs9340799(A/G)
    ESR2/rs1256120(C/T)
    阴性关联
    Sobhan等[8] 2020 中国
    日本
    波兰
    黄种人
    (1640/1171)
    (842/534)
    (1000/811)
    白种人
    (287/182)
    (287/182)
    (248/243)
    ESR1/rs9340799(A/G)
    ESR1/rs2234693(T/C)
    ESR2/rs1256120(C/T)
    ESR1/rs9340799(A/G)可能
    与黄种人有阳性关联,
    其余阴性关联
    Zhao等[5] 2016 中国
    日本
    波兰
    黄种人(1016/777)
    白种人(248/243)
    ESR2/rs1256120(C/T) 阴性关联
    下载: 导出CSV

    表  2  骨代谢基因多态性与AIS易感性的关系

    Table  2.   The relationship between bone metabolism-related gene polymorphisms and susceptibility to AIS

    作者 年份 国家 人种(病例组/正常组) 基因/SNP rs号(等位基因) 阳性/阴性关联
    高军胜等[9] 2018 中国 黄种人(182/210) IL-6/rs1800795(G/C) 阴性关联
    Sobhan等[16] 2019 伊朗 亚洲人(80/80) IL-6/rs1800795(G/C) 阴性关联
    Sobhan等[16] 2019 韩国
    匈牙利
    保加利亚
    意大利
    中国
    伊朗
    白种人(364/773)
    亚洲人(1331/1324)
    IL-6/rs1800795(G/C) 在白种人群中阳性关联
    Sui等[13] 2016 中国 黄种人(200/200) IL-6/rs1800795(G/C)
    MMP-3/rs3025058(5A/7A)
    IL-6/rs1800795与AIS是阴性关联;
    MMP-3/rs3025058与AIS是阳性关联
    周传坤等[17] 2018 中国
    保加利亚
    匈牙利
    韩国
    意大利
    亚洲人
    (678/602)
    (687/694)
    高加索人(284/613)
    (284/613)
    IL-6/rs1800795(G/C)
    MMP-3/rs3025058(5A/7A)
    IL-6/rs1800795与AIS是阴性关联;
    MMP-3/rs3025058与AIS是阳性
    关联,尤其是在高加索人群
    下载: 导出CSV

    表  3  多民族易感基因多态性与AIS易感性的关系

    Table  3.   The relationship between multi-ethnic susceptibility gene polymorphisms and susceptibility to AIS

    作者 年份 国家 人种和样本量 基因/SNP rs号(等位基因) 阳性/阴性关联
    Liu等[24] 2016 中国 黄种人(180/182) LBX1/rs11190870(C/T)
    LBX1/rs1322331(T/G)
    LBX1/rs4917933(A/G)
    LBX1/rs625039(A/G)
    LBX1/rs11190872(T/C)
    rs11190870、rs1322331与AIS
    为阳性关联,其余为阴性关联
    Man等[23] 2018 中国 黄种人(319/201) LBX1/rs11190870(C/T)
    SOX9/KCNJ2 rs12946942(G/T)
    PAX3/EPHA4 rs13398147(C/T)
    AJAP1/rs241215(T/A)
    BNC2/rs3904778(C/G)
    GPR126/rs6570507(A/G)
    LBX1-AS1/rs678741 (A/G)
    LBX1/rs11190870
    BNC2/rs3904778
    GPR126/rs6570507;
    LBX1-AS1/rs678741
    与AIS为阳性关联,
    其余为阴性关联
    Londono等[29] 2014 中国
    美国
    日本
    黄种人
    (3771/15605)
    非黄种人
    (1388/2235)
    LBX1/rs11190870(C/T)
    阳性关联
    Chettier等[27] 2015 美国 白种人(620/1287) LBX1中的500个位点 rs11190870与AIS为阳性关联,
    其余为阴性关联
    Grauers等[25] 2015 瑞典
    丹麦
    白种人
    (1739/1812)
    GPR126/rs6570507(A/G)
    LBX1/rs11190870(C/T)
    CHL1/rs10510181(A/G)
    基因间/rs12946942(T/G)
    rs11190870与AIS为阳性关联,
    其余为阴性关联
    Nada等[26] 2017 加拿大 白种人
    (667/901)
    LBX1/rs11190870(C/T)
    LBX1/rs7893223(T/C)
    LBX1/rs594791(A/G)
    LBX1/rs11190878(A/G)
    阳性关联
    Jiang等[30] 2019 日本
    中国
    美国
    瑞典
    加拿大
    亚洲人
    (7712/21529)
    高加索人
    (3699/5080)
    LBX1/rs11190870(C/T)
    LBX1/rs11598564(A/G)
    LBX1/rs678741(A/G)
    LBX1/rs625039(A/G)
    rs11190870、
    rs625039、
    rs11598564
    与AIS为阳性关联;
    rs678741在AIS发生
    中期保护作用。
    Li等[22] 2018 中国
    日本
    美国
    瑞典
    丹麦
    亚洲人
    (3458/15279)
    高加索人
    (620/1287)
    非以上两人种
    (2412/2892)
    LBX1/rs11190870(C/T)
    阳性关联
    Kou等[28] 2018 日本
    中国
    美国
    斯堪的纳维亚
    黄种人
    (3991/29845)
    高加索人
    (2882/9071)
    GPR126/rs6570507(A/G)
    阳性关联
    下载: 导出CSV

    表  4  女性特异性基因多态性与AIS易感性的关系

    Table  4.   The relationship between female-specific gene polymorphisms and susceptibility to AIS

    作者 年份 国家 人种和样本量 基因/SNP rs号(等位基因) 阳性/阴性关联
    Dai等[12] 2021 中国 黄种人(1599/ 2985) BOC/rs73235136(C/A)
    SEC16B/rs545608(G/A)
    阳性关联
    Kou等[41] 2019 日本 黄种人(5004/33679) BOC/rs73235136(C/A)
    阳性关联
    Sharma等[35] 2015 美国 高加索人(216/336) PAX1/rs6137473(A/G) 阳性关联
    下载: 导出CSV
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出版历程
  • 收稿日期:  2022-01-24
  • 刊出日期:  2022-11-25

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