Zhang Hong-Qi, Lu Shi-Jin, Tang Ming-Xing, Chen Ling-Qiang, Liu Shao-Hua, Guo Chao-Feng, Wang Xi-Yang, Chen Jing, Xie Ling
Department of Spine Surgery, Xiangya Spinal Surgery Center, Xiangya Hospital of Central South University, ChangSha, China.
Spine (Phila Pa 1976). 2009 Apr 15;34(8):760-4. doi: 10.1097/BRS.0b013e31818ad5ac.
A case-control study is presented.
To investigate the association of estrogen receptor beta gene polymorphisms with susceptibility to adolescent idiopathic scoliosis.
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.
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.
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 < 0.05). The C alleles appeared to be overrepresented in patients compared with controls (P < 0.05). Furthermore, the frequencies of CC genotypes in female patients whose height was > 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.
本研究为病例对照研究。
探讨雌激素受体β基因多态性与青少年特发性脊柱侧凸易感性之间的关联。
研究表明，特发性脊柱侧凸与遗传因素有关，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之间的关系尚未得到研究。
本研究纳入218例青少年特发性脊柱侧凸患者和140例健康对照者。记录女性患者的身高、月经初潮状态、侧弯类型、Cobb角和Risser征。通过静脉穿刺采集每位受试者的血样。采用标准酚/氯仿提取法从外周血白细胞中提取基因组DNA。使用变性高效液相色谱法分析所有个体基因组DNA扩增的PCR产物。对具有异常HPLC图谱的样本在ABI 3100自动测序仪上进行正向和反向测序。采用卡方检验确定青少年特发性脊柱侧凸患者与对照组之间基因型分布的显著差异。
外显子ØK（实际为5'非翻译区OK-1）的CC基因型频率在患者中显著高于对照组（P<0.05）。与对照组相比，患者中C等位基因的比例似乎过高（P<0.05）。此外，身高≥160 cm且Cobb角≥30°的女性患者中CC基因型频率高于身高<160 cm且Cobb角<30°的患者（P<0.05）。结论：雌激素受体β基因外显子ØK多态性位点可能与青少年特发性脊柱侧凸的易感性有关。此外，外显子ØK多态性位点可能与患者的身高和侧弯严重程度有关。
