Matrilin-1基因多态性对青少年特发性脊柱侧凸进展的预测价值

目的 探讨Matrilin-1基因多态性在预测青少年特发性脊柱侧凸(adolescent idiopathicscoliosis,AIS)是含进展为严重脊柱侧凸方面的价值.方法 2006年6月至2007年3月在我院就诊的AIS患者267例,男40例,女227例.104例手术治疗,163例定期门诊随访,记录患者末次随访或术前最大Cobb角、初潮年龄、侧凸弯型、身高、臂长及体重.选取Matrilin-1基因启动子区域位点rs1149048进行聚合酶链式反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length poly-morphism,PCR-RFLP)基因分型.进展型侧凸(脊柱侧凸进展成为严重脊柱侧凸)定义为骨骼发育未成熟时Cobb角>40°或骨骼发育成熟时Cobb角>50°.AIS患者被分为进展型与非进展型两组,比较两组间的临床特征及基因型分布的差异.分析侧凸进展的危险因素.结果 267例AIS患者中162例(60.7%)为非进展型,105例(39.3%)为进展型.进展型组月经初潮年龄较晚(>13岁),且三弯及胸腰双主弯所占比例高,基因型GG的个体在进展型组比例高(55.2%).初潮年龄晚、三弯、胸腰双主弯及基因型CG为侧凸进展的危险因素.结论 Matrilin-1基因多态性可被用来预测AIS进展,结合其他相关预测因素可提高预测的准确性.

The value of Matrilin-1 gene (MATN-1) polymorphism on predicting the progression of adolescent idiopathic scoliosis

Objective To investigate the value of Matrilin-1 geue polymorphisms for predicting progression of adolescent idiopathic scoliosis (AIS). Methods This study population consisted of 267 patients with AIS which only received observation or surgery. The maximum Cobb angle, age of menarche, curve pattern, height, arm span and body weight were recorded. The rs1149048 polymorphism in promoter of Matrilin1 gene was chosen for genotyping by polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) method. Progression to a severe curve was defined per usual clinical criteria (progression to a > 40° Cobb angle in an individual still growing or progression to a >50° Cobb angle in an adult). All AIS patients were categorized by progressive and non-progressive groups. And comparisons of clinical characteristic and genotype distribution between the two groups were analyzed. Results Of the 267 patients, 162 (60.7%) had progression of the curve, and 105 (39.3%) had non-progression of the curve. The mean age was later, and the rate of triple or double thoracic and lumbar curve was higher in progressive group. And there were more genetype of GG in progressive group. The risk factors of curve progression included a delay age of menarche, curve pattern of triple or double thoracic and lumbar curve and genotype of GG of rs1149048. Conclusion Gene polymorphism of Matrilin-1 gene could be used as a predictive index on progression of AIS. Combined with other prognostic factor, the accuracy of predictive value could be largely improved.