Inoue Masatoshi, Minami Shohei, Nakata Yoshinori, Kitahara Hiroshi, Otsuka Yoshinori, Isobe Keijiro, Takaso Masashi, Tokunaga Makoto, Nishikawa Shinsuke, Maruta Tetsuro, Moriya Hideshige
Department of Orthopaedic Surgery, School of Medicine, Chiba University, Chiba, Japan.
Spine (Phila Pa 1976). 2002 Nov 1;27(21):2357-62. doi: 10.1097/00007632-200211010-00009.
Analysis of the estrogen receptor gene of girls with idiopathic scoliosis.
To determine whether estrogen receptor gene polymorphisms correlate with curve severity of adolescent idiopathic scoliosis.
Studies suggest that idiopathic scoliosis is a familial condition and that curve progression is related to genetically determined factors, such as skeletal and sexual growth.
A total of 304 girls with idiopathic scoliosis were followed until growth maturation. Height, arm span, menarcheal age, and age at growth maturation were recorded, and curve severity was measured using Cobb's method. The estrogen receptor gene, which contains polymorphic PvuII and XbaI sites, was amplified from lymphocyte deoxyribonucleic acid by polymerase chain reaction.
The mean maximum Cobb measurements for patients with genotypes XX and Xx were greater than for those with genotype xx (P = 0.002). The risk of curve progression, defined as progression of >5 degrees from initial evaluation, was higher with genotype Xx than with xx (P = 0.03). Patients with genotypes XX and Xx had a significantly higher risk for operative treatment than those with genotype xx (21.4%, 24.7% vs. 7.6%, P< 0.001). Growth examination around the time of the growth spurt revealed that the XbaI site polymorphism was also related to the age of growth maturation. The frequency of patients with growth maturation at >or=16 years was higher for genotypes XX and Xx than for genotype xx (33.3%, 29.9% vs. 16.8%, P= 0.013).
Our results suggest that the XbaI site polymorphism is associated with curve severity. DNA analysis may predict curve progression.
对特发性脊柱侧凸女孩的雌激素受体基因进行分析。
确定雌激素受体基因多态性是否与青少年特发性脊柱侧凸的侧弯严重程度相关。
研究表明，特发性脊柱侧凸是一种家族性疾病，且侧弯进展与遗传决定因素有关，如骨骼和性发育。
对304例特发性脊柱侧凸女孩进行随访直至生长成熟。记录身高、臂展、初潮年龄和生长成熟年龄，并采用Cobb法测量侧弯严重程度。通过聚合酶链反应从淋巴细胞脱氧核糖核酸中扩增包含多态性PvuII和XbaI位点的雌激素受体基因。
基因型为XX和Xx的患者的平均最大Cobb测量值高于基因型为xx的患者（P = 0.002）。定义为从初始评估起进展>5度的侧弯进展风险，基因型为Xx的患者高于基因型为xx的患者（P = 0.03）。基因型为XX和Xx的患者接受手术治疗的风险显著高于基因型为xx的患者（21.4%，24.7% 对 7.6%，P<0.001）。生长突增期前后的生长检查显示，XbaI位点多态性也与生长成熟年龄有关。基因型为XX和Xx的患者生长成熟年龄≥16岁的频率高于基因型为xx的患者（33.3%，29.9% 对 16.8%，P = 0.013）。
我们的结果表明，XbaI位点多态性与侧弯严重程度相关。DNA分析可能预测侧弯进展。
