Research Progress of Single Nucleotide Polymorphism and Adolescent Idiopathic Scoliosis
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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。
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关键词:
- 青少年特发性脊柱侧凸 /
- 基因 /
- 多态性 /
- 单核苷酸 /
- 民族
Abstract: The incidence of adolescent idiopathic scoliosis （AIS） worldwide is 1%～3%, the base of the diseased population is large, and it causes both physical and psychological pains to patients. Numerous studies have shown that genetic factors may play an important role in the occurrence and development of AIS. The correlation between single nucleotide polymorphisms （SNPs） and AIS is the focus of medical molecular research in recent years. In-depth research on the SNPs of susceptibility genes will help to explore new strategies for the prevention, diagnosis and treatment of AIS. This article reviews the research advances concerning gene SNPs and AIS susceptibility.-
Key words:
- Adolescent idiopathic scoliosis /
- Genes /
- Polymorphism /
- Single nucleotide /
- Nationality
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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
下载: 导出CSV
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![](data:image/svg+xml,<svg xmlns='http://www.w3.org/2000/svg' width='210' height='179'><foreignObject width='2000' height='100%'><div xmlns='http://www.w3.org/1999/xhtml' style='font-size:16px;font-family:Helvetica'><table>
<thead>
<tr>
<td class="table_top_border" align="left" valign="middle">作者</td>
<td class="table_top_border" align="center" valign="middle">年份</td>
<td class="table_top_border" align="center" valign="middle">国家</td>
<td class="table_top_border" align="center" valign="middle">人种（病例组/正常组）</td>
<td class="table_top_border" align="center" valign="middle">基因/SNP rs号（等位基因）</td>
<td class="table_top_border" align="center" valign="middle">阳性/阴性关联</td>
</tr>
</thead>
<tbody>
<tr>
<td class="table_top_border2" style="padding-top:1pt;" align="left" valign="top">Janusz等<sup>[<span class="xref"><a href="#b6" ref-type="bibr">6</a></span>]</sup></td>
<td class="table_top_border2" style="padding-top:1pt;" align="center" valign="top">2013</td>
<td class="table_top_border2" style="padding-left:15pt;padding-top:1pt;" valign="top" align="left">波兰</td>
<td class="table_top_border2" style="padding-left:15pt;padding-top:1pt;" valign="top" align="left">白种人（287/182）</td>
<td class="table_top_border2" style="padding-left:15pt;padding-top:1pt;" valign="top" align="left">ESR1/rs9340799（A/G）
<br>ESR1/rs2234693（T/C）
</td>
<td class="table_top_border2" style="padding-left:15pt;padding-top:1pt;" valign="top" align="left">阴性关联</td>
</tr>
<tr>
<td align="left" valign="top" style="padding-top:1pt;">Takahashi等<sup>[<span class="xref"><a href="#b7" ref-type="bibr">7</a></span>]</sup></td>
<td align="center" valign="top" style="padding-top:1pt;">2011</td>
<td valign="top" align="left" style="padding-left:15pt;padding-top:1pt;">日本</td>
<td valign="top" align="left" style="padding-left:15pt;padding-top:1pt;">黄种人（798/637）</td>
<td valign="top" align="left" style="padding-left:15pt;padding-top:1pt;">ESR1/rs9340799（A/G）
<br>ESR2/rs1256120（C/T）
</td>
<td valign="top" align="left" style="padding-left:15pt;padding-top:1pt;">阴性关联</td>
</tr>
<tr>
<td align="left" valign="top" style="padding-top:1pt;">Sobhan等<sup>[<span class="xref"><a href="#b8" ref-type="bibr">8</a></span>]</sup></td>
<td align="center" valign="top" style="padding-top:1pt;">2020</td>
<td valign="top" align="left" style="padding-left:15pt;padding-top:1pt;">中国
<br>日本
<br>波兰
<br>
</td>
<td valign="top" align="left" style="padding-left:15pt;padding-top:1pt;">黄种人
<br>（
<styled-content style-type="number">1640</styled-content>/
<styled-content style-type="number">1171</styled-content>）
<br>（842/534）
<br>（
<styled-content style-type="number">1000</styled-content>/811）
<br>白种人
<br>（287/182）
<br>（287/182）
<br>（248/243）
</td>
<td valign="top" align="left" style="padding-left:15pt;padding-top:1pt;">ESR1/rs9340799（A/G）
<br>ESR1/rs2234693（T/C）
<br>ESR2/rs1256120（C/T）
</td>
<td valign="top" align="left" style="padding-left:15pt;padding-top:1pt;">ESR1/rs9340799（A/G）可能
<br>与黄种人有阳性关联，
<br>其余阴性关联
</td>
</tr>
<tr>
<td class="table_bottom_border" style="padding-top:1pt;" align="left" valign="top">Zhao等<sup>[<span class="xref"><a href="#b5" ref-type="bibr">5</a></span>]</sup></td>
<td class="table_bottom_border" style="padding-top:1pt;" align="center" valign="top">2016</td>
<td class="table_bottom_border" style="padding-left:15pt;padding-top:1pt;" valign="top" align="left">中国
<br>日本
<br>波兰
</td>
<td class="table_bottom_border" style="padding-left:15pt;padding-top:1pt;" valign="top" align="left">黄种人（
<styled-content style-type="number">1016</styled-content>/777）
<br>白种人（248/243）
</td>
<td class="table_bottom_border" style="padding-left:15pt;padding-top:1pt;" valign="top" align="left">ESR2/rs1256120（C/T）</td>
<td class="table_bottom_border" style="padding-left:15pt;padding-top:1pt;" valign="top" align="left">阴性关联</td>
</tr>
</tbody>
</table></div></foreignObject></svg>)
