Association of estrogen receptor beta gene polymorphisms with susceptibility to adolescent idiopathic scoliosis.
Association of estrogen receptor beta gene polymorphisms with susceptibility to adolescent idiopathic scoliosis.
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DOI：
10.1097/brs.0b013e31818ad5ac
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发表时间：
2009
期刊：
影响因子：
3
通讯作者：
Hongqi Zhang;Shi-jin Lu;Mingxing Tang;Ling-qiang Chen;ShaoHua Liu;Chaolei Guo;Xi-yang Wang;J. Chen;L. Xie
中科院分区：
文献类型：
--
作者：
Hongqi Zhang;Shi-jin Lu;Mingxing Tang;Ling-qiang Chen;ShaoHua Liu;Chaolei Guo;Xi-yang Wang;J. Chen;L. Xie
研究设计：病例对照研究。目的探讨雌激素受体β基因多态性与青少年特发性脊柱侧弯易感性的关系。研究表明特发性脊柱侧弯与遗传因素有关，如雌激素受体α基因的XbaI位点多态性。然而，据我们所知，雌激素受体β基因多态性与特发性脊柱侧凸个体易感性的关系尚未被研究。方法本研究包括218例AIS患者和140例健康对照。记录女性患者身高、月经初潮情况、曲线型、Cobb角和Risser征。通过静脉穿刺法从每个受试者身上采集血样。用标准酚/氯仿抽提法从外周血白细胞中提取基因组DNA。对所有个体的基因组DNA扩增产物进行变性高效液相色谱分析。在ABI 3100自动测序仪上，对具有异常高效液相图谱的样品进行了正向和反向测序。用卡方检验确定AIS患者和对照组之间的基因分布差异。结果患者组外显子(实际上为5‘UTROK-1)CC基因频率显著高于对照组(P<0.05)，且Cobb角为&30°、身高为<；160 cm者高于正常对照组(P<0.05)。结论：雌激素受体β基因外显子ÖK多态可能与AIS的易感性有关。此外，患者的身高和脊柱侧弯严重程度可能与其外显子ÖK多态有关。
STUDY DESIGN A case-control study is presented. OBJECTIVE To investigate the association of estrogen receptor beta gene polymorphisms with susceptibility to adolescent idiopathic scoliosis. SUMMARY OF BACKGROUND DATA Studies have shown that idiopathic scoliosis is related to genetic factors, such as XbaI site polymorphism of the estrogen receptor alpha gene. To our knowledge, however, the relationship of estrogen receptor beta gene polymorphisms and the individual susceptibility to idiopathic scoliosis has not been studied. METHODS This study included 218 patients with AIS and 140 healthy controls. Height, menarche status, curve pattern, Cobb angle, and Risser sign in female patients were recorded. Blood samples were taken from each subject by venipuncture. Genomic DNA was extracted from peripheral blood leukocytes using standard phenol/chloroform extraction. PCR products from amplification of genomic DNA from all individuals were analyzed using denaturing high-performance liquid chromatography. Samples with aberrant HPLC profiles were sequenced in both the forward and the reverse directions on an ABI 3100 automated sequencer. The chi test was used to determine the significant difference in genotype distribution between patients with AIS and the controls. RESULTS The frequency of CC genotype of the exon ØK (in reality 5' UTR OK-1)was significantly higher in patients than that in controls (P or =160 cm and Cobb angle was > or =30 degrees were higher than those whose height was <160 cm and Cobb angle was <30 degrees (P < 0.05). CONCLUSION.: The sites of the exon ØK polymorphisms of estrogen receptor beta gene may be associated with a susceptibility of AIS. Furthermore, the sites of the exon ØK polymorphism may be associated with the height and the curve severity of patients.