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SPRY4遗传多态性与中国汉族人群青少年特发性脊柱侧凸相关:一项单中心回顾性研究

吴增玉 张跃川 彭越 吴南 邱贵兴 庄乾宇 仉建国

吴增玉, 张跃川, 彭越, 吴南, 邱贵兴, 庄乾宇, 仉建国. SPRY4遗传多态性与中国汉族人群青少年特发性脊柱侧凸相关:一项单中心回顾性研究[J]. 协和医学杂志, 2023, 14(3): 553-558. doi: 10.12290/xhyxzz.2022-0575
引用本文: 吴增玉, 张跃川, 彭越, 吴南, 邱贵兴, 庄乾宇, 仉建国. SPRY4遗传多态性与中国汉族人群青少年特发性脊柱侧凸相关:一项单中心回顾性研究[J]. 协和医学杂志, 2023, 14(3): 553-558. doi: 10.12290/xhyxzz.2022-0575
WU Zengyu, ZHANG Yuechuan, PENG Yue, WU Nan, QIU Guixing, ZHUANG Qianyu, ZHANG Jianguo. Genetic Polymorphisms of SPRY4 are Associated with Adolescent Idiopathic Scoliosis in Chinese Han Population: A Single Center Retrospective Study[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(3): 553-558. doi: 10.12290/xhyxzz.2022-0575
Citation: WU Zengyu, ZHANG Yuechuan, PENG Yue, WU Nan, QIU Guixing, ZHUANG Qianyu, ZHANG Jianguo. Genetic Polymorphisms of SPRY4 are Associated with Adolescent Idiopathic Scoliosis in Chinese Han Population: A Single Center Retrospective Study[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(3): 553-558. doi: 10.12290/xhyxzz.2022-0575

SPRY4遗传多态性与中国汉族人群青少年特发性脊柱侧凸相关:一项单中心回顾性研究

doi: 10.12290/xhyxzz.2022-0575
基金项目: 

北京市自然科学基金 7232111

详细信息
    通讯作者:

    庄乾宇, E-mail: zhuangqianyu@126.com

    仉建国, E-mail: zhangjianguopumch@126.com

  • 中图分类号: R726.8;R687;R394

Genetic Polymorphisms of SPRY4 are Associated with Adolescent Idiopathic Scoliosis in Chinese Han Population: A Single Center Retrospective Study

Funds: 

Natural Science Foundation of Beijing 7232111

More Information
  • 摘要:   目的  探究SPRY4基因多态性与中国汉族人群青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)及PUMC分型的相关性,以期为该病的病因学研究提供思路。  方法  回顾性收集2017年12月—2021年12月北京协和医院诊治的中国北方地区汉族AIS患者及按年龄、性别与其进行1∶1匹配的健康受试者临床资料。比较二者SPRY4基因rs3797053、rs10040443位点等位基因频率及基因型分布差异,并分析上述位点基因型与AIS患者PUMC分型的关联性。  结果  共入选符合纳入与排除标准的AIS患者97例,健康受试者100名。AIS患者rs10040443位点等位基因C[17.5%(34/194)比8.0%(16/200),P=0.005]及CC基因型频率[10.3%(10/97)比1.0%(1/100),P=0.0014]均高于健康受试者,rs3797053位点等位基因频率及基因型分布与健康受试者均无显著差异(P均>0.05)。多因素Logistic回归分析校正性别的影响后,rs10040443位点多态性在共显性、隐性及加性遗传模式下与AIS均存在关联性,其CC基因型可增加AIS发生风险;在各种遗传模式下,rs3797053位点多态性与AIS均无明显关联性。AIS患者SPRY4基因rs10040443位点基因型分布与PUMC分型具有一定关联性,CT+TT基因型患者中PUMC Ⅱ型的比例显著高于CC基因型患者(66.67% 比0,P<0.001);rs3797053位点基因型分布与PUMC分型无明显关联性(P=0.315)。  结论  中国北方地区汉族人群SPRY4基因rs10040443位点多态性与AIS相关,该位点CC基因型可能是AIS的危险因素,CT+TT基因型与PUMC Ⅱ型具有一定关联。
    作者贡献:吴增玉负责研究设计、数据收集与整理、统计分析、论文撰写;张跃川负责文献检索;彭越负责伦理材料收集;吴南负责测序数据及伦理材料收集;邱贵兴、庄乾宇、仉建国负责研究设计、研究指导、论文修订。
    利益冲突:所有作者均声明不存在利益冲突
  • 表  1  AIS患者与健康受试者SPRY4基因rs3797053、rs10040443位点基因型及等位基因分布比较[n(%)]

    组别 rs3797053 rs3797053 rs10040443 rs10040443
    A G AA GA GG C T CC CT TT
    健康受试者(n=100) 126(63.0) 74(37.0) 40(40.0) 46(46.0) 14(14.0) 16(8.0) 184(92.0) 1(1.0) 14(14.0) 85(85.0)
    AIS患者(n=97) 133(68.5) 61(31.5) 45(46.3) 43(44.3) 9(9.4) 34(17.5) 160(82.5) 10(10.3) 14(14.4) 73(75.3)
    P 0.245 0.499 0.005 0.014
    AIS:青少年特发性脊柱侧凸
    下载: 导出CSV

    表  2  校正性别因素后,SPRY4基因rs3797053位点与AIS的关联性分析[n(%)]

    遗传模式 健康受试者(n=100) AIS患者(n=97) OR(95% CI) P
    共显性 0.460
      AA 40(40.0) 45(46.4) 1
      GA 46(46.0) 43(44.3) 0.83(0.46~1.51)
      GG 14(14.0) 9(9.3) 0.57(0.22~1.46)
    显性 0.340
      AA 40(40.0) 45(46.4) 1
      GA+GG 60(60.0) 52(53.6) 0.77(0.44~1.36)
    隐性 0.280
      AA+GA 86(86.0) 88(90.7) 1
      GG 14(14.0) 9(9.3) 0.63(0.26~1.53)
    超显性 0.800
      AA+GG 54(54.0) 54(55.7) 1
      GA 46(46.0) 43(44.3) 0.93(0.53~1.64)
    加性 0.78(0.51~1.19) 0.230
    AIS:同表 1
    下载: 导出CSV

    表  3  校正性别因素后,SPRY4基因rs10040443位点与AIS的关联性分析[n(%)]

    遗传模式 健康受试者(n=100) AIS患者(n=97) OR(95% CI) P
    共显性 0.010
      TT 85(85.0) 73(75.3) 1
      CT 14(14.0) 14(14.4) 1.16(0.52~2.60)
      CC 1(1.0) 10(10.3) 11.64(1.46~93.10)
    显性 0.093
      TT 85(85.0) 73(75.3) 1
      CT+CC 15(15.0) 24(24.7) 1.86(0.91~3.82)
    隐性 0.0026
      TT+CT 99(99.0) 87(89.7) 1
      CC 1(1.0) 10(10.3) 11.38(1.43~90.66)
    超显性 0.950
      TT+CC 86(86.0) 83(85.6) 1
      CT 14(14.0) 14(14.4) 1.04(0.47~2.31)
    加性 1.96(1.12~3.43) 0.015
    AIS: 同表 1
    下载: 导出CSV

    表  4  不同性别、PUMC分型AIS患者SPRY4基因rs3797053、rs10040443位点基因型分布比较[n(%)]

    基因位点 性别 PUMC分型
    男性 女性 Ⅰ型 Ⅱ型 Ⅲ型
    rs3797053
    AA 6(6.2) 39(40.2) 17(17.5) 24(24.8) 4(4.1)
    GA 6(6.2) 37(38.1) 9(9.3) 27(27.8) 7(7.2)
    GG 1(1.0) 8(8.2) 2(2.1) 7(7.2) 0(0)
    P* >0.999 0.315
    rs10040443
    CC 1(1.0) 9(9.3) 6(6.2) 0(0) 4(4.1)
    CT 2(2.1) 12(12.4) 7(7.2) 5(5.2) 2(2.1)
    TT 10(10.3) 63(64.9) 15(15.4) 53(54.6) 5(5.2)
    P* >0.999 <0.001
    *采用Fisher精确概率法;AIS:同表 1
    下载: 导出CSV
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出版历程
  • 收稿日期:  2022-10-06
  • 录用日期:  2022-11-22
  • 网络出版日期:  2022-11-24
  • 刊出日期:  2023-05-30

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