Matrilin-1基因多态性与青少年特发性脊柱侧凸支具疗效的相关性  

Association between matrilin-1 gene polymorphism and bracing effectiveness in adolescent idiopathic scoliosis girls

作　　者：俞杨[1] 陈志军[1] 邱勇[1] 张俊杰[1] 刘文军[1] 

机构地区：[1]南京大学医学院附属鼓楼医院脊柱外科,210008

出　　处：《中华外科杂志》2009年第22期1728-1731,共4页Chinese Journal of Surgery

基　　金：江苏省自然科学基金资助项目（BK2007003）

摘　　要：目的探讨matrilin-1基因多态性与青少年特发性脊柱侧凸（AIS）患者支具治疗效果的相关性。方法自2005年1月至2008年12月，对门诊行规范化支具治疗的AIS患者进行前瞻性研究。入选对象要求：女性患者；骨骼发育为未成熟状态（Risser征0～3级）；月经初潮未至或来潮1．5年以内；标准站立位全脊柱X线片上侧凸Cobb角为20°～40°；排除了先天性和神经肌源性以及其他原因引起的侧凸；无已知的可影响骨塑型和钙代谢的病史和药物使用史；初诊前无支具治疗史；接受支具治疗（Boston支具或Milwaukee支具）期间每3个月复诊1次，随访时间超过2年。符合下述条件之一者，则予以剔除：最终随访不足2年；支具治疗过程中依从性（每Ft实际佩戴时间与建议佩戴时间的比值）较差（〈75％）；支具治疗期问未按照医嘱自行更换支具。根据患者侧凸类型选择相应的支具进行治疗。记录初次就诊及末次随访的原发弯的Cobb角。支具治疗失败的标准为原发弯增加〉5°。选取matrilin-1基因启动子区域位点rs1149048进行PCR-RFLP基因分型。按支具疗效分为治疗失败和治疗成功两组，比较两组之间的初诊年龄、Risser征、侧凸类型、初诊Cobb角及基因型分布的差异并进行统计学分析。结果共有77例AIS女孩人选并完成本研究。初诊时平均年龄为（13．0±1．5）年，平均主弯Cobb角为29．5°±7．8°。在平均（2．6±0．3）年随访后，平均主弯Cobb角为30．3°±11．9°。支具治疗失败总共19例（24．7％），支具治疗成功58例（75．3％）。支具治疗失败组的初诊Cobb角较大（P〉0．05）。在不同的侧凸类型中，胸腰双主弯的支具治疗失败率最低（19．4％）。基因型GG个体支具治疗失败率（66．7％）明显高于基因型为AA或AG的个体。结论通过早期规范化支具治疗，大部分脊柱侧凸进展可得到控制。初诊CObjectives To investigate the association between matrilin-1 gene polymorphism and bracing effectiveness in adolescent idiopathic scoliosis girls. Methods In a prospective study, AIS girls treated with standard bracing from January 2005 to December 2008 were included and followed up. All subjects of the study met the following criteria： female; skeletally immature （Risser sign grade 0-3） ; before menarche or 〈 1.5 years after menarche; Cobb angle 20°-40°; scoliosis caused by congenital, neuromuscular and other cause were excluded; no evidence of bone diseases, metabolic diseases or other condition known to affect bone metabolism ; no history of bracing before onset ; follow-up with an interval of 3 months, and total follow-up time 〉 2 years. Subjects met one of the following conditions was excluded ： the final follow-up time 〈 2 years ; bad compliance （ ratio of the actual daily wearing time to proposed wearing time） of bracing （ 〈75% ）; change of bracing without doctor＇s order. Cobb angle of major curve was recorded before the bracing initiation and at the final follow-up. A progression of 6° or more was considered to be a failure of bracing. The rs1149048 polymorphism in promoter of matrilin-1 gene was chosen for genotyping by PCH-HFLP method. Differences in age at initial visit, Hisser sign, Cobb angle and genotype distribution were compared between brace failure and brace success groups. Results Seventy seven patients with AIS were included, with a mean age at （ 13.0 ± 1.5 ） years and a mean Cobb angle at （30. 3 ± 11.9 ）° . After an average duration of 2. 6 years follow-up, mean Cobb angle was 30. 3°± 11.9°. There were 19 cases （24. 7% ） in bracing failure and 58 cases（75.3% ） in bracing success. The initial Cobb angle was larger in bracing failure group compared with bracing success group （ P 〉 0. 05 ）. Patients with double major curve were found to have the lowest bracing failure rate （19.4%）, but there was no significant difference compared with

关 键 词：脊柱侧凸 青少年 基因 基因型 治疗效果 

分 类 号：R686[医药卫生—骨科学]