钙调蛋白1基因多态性和青少年特发性脊柱侧凸不同亚型的关系

Association of calmodulin 1 gene polymorphisms with different subtypes of adolescent idiopathic scoliosis

目的 探讨钙调蛋白1基因rs12885713（-16C〉T）、rs5871等位基因多态性和特发性脊柱侧凸及其不同临床亚型的关联性。方法 2005年10月至2007年4月，北京协和医院接受手术治疗的青少年特发性脊柱侧凸患者100例（Cobb角〉30°），对照组100例。QIAamp DNA微型血液试剂盒外周静脉血提取DNA。设计钙调蛋白1基因rs12885713、rs5871所在序列引物，完成PCR扩增反应；ABI3730测序仪分析SNP位点基因型。结果所有患者按照PUMC分型、主弯顶点位置以及Cobb角分组。结果 显示：（1）rs12885713位点等位基因多态性分布情况在PUMCⅡ型患者和对照组之间差异有统计学意义（P=0．034）；（2）rs12885713等位基因多态性分布情况在腰弯患者和对照组之间差异有统计学意义（P=0．009）；（3）rs5871位点等位基因多态性分布情况在胸弯患者和对照组之间差异有统计学意义（P=0．035）。结论 钙调蛋白1基因不同SNP位点等位基因多态性可能和特发性脊柱侧凸不同临床亚型相关联：（1）rs12885713位点等位基因多态性可能和PUMCⅡ型特发性脊柱侧凸相关联；（2）腰弯侧凸可能和rs12885713位点等位基因多态性关联；（3）胸弯侧凸可能和rs5871位点等位基因多态性关联。

Objective To investigate the relationship between： 1） rs12885713（-16C〉T）, rs5871 allele polymorphisms in calmodulinl （CALM1） gene and adolescent idiopathic scoliosis （AIS）; 2） either of these 2 SNPs （single nucleotide polymorphisms） and different subtypes of AIS. Methods A total of 100 Chinese AIS patients （Cobb angle above 30°） from spinal center of Peking Union Medical College Hospital were recruited as cases together with 100 healthy controls. Curve pattern, such as PUMC classification, the apical location of major curve, and Cobb angle, were recorded. DNA was extracted from peripheral-vein blood with QIAamp DNA mini blood kits. CLAM1 gene rs12885713 （-16C〉T） and rs5871 locus, were sequenced with ABI3730 genetic analyzer. Results All patients were grouped according to PUMC classification, the apical location of major curve, and Cobb angle, respectively. The statistical results shown： 1）Between the PUMC type Ⅱ patients and the controls, there was statistical significance on the distribution of rs12885713 site polymorphism （P=0.034）; 2）Between the lumbar curve cases and the controls, there was difference on the distribution of rs12885713 site polymorphism （P=-0.009）; 3）Between the thoracic curve patients and the controls, there was difference on the distribution of rs5871 site polymorphism （P=0.035）. Conclusion Different subtypes of AIS might be related to different SNPs in calmodulinl gene. The susceptibility of PUMC type Ⅱ AIS and lumbar curve might be related to CALM1 gene rs12885713 （-16C〉T） site polymorphism while CALM1 gene rs5871 site polymorphism might be a risk factor for thoracic curve.