中文摘要：

目的探讨钙调蛋白2基因（CALM2基因）与青少年特发性脊柱侧凸遗传易感性的相关性。方法采集北京协和医院骨科确诊的汉族青少年特发性脊柱侧凸患者107例,对照组107例,病例组按照PUMC分型进行分组。采外周血试剂盒提取DNA。根据国际人类基因组单倍体型图计划提供的基因型数据,选取CALM2基因的SNPs位点,应用VeraCode GoldenGate Genotyping Assay基因芯片进行SNPs基因型鉴定。用关联分析法探索CALM2基因与患者发病及临床表型之间的关系。结果 CALM2的rs10153674等位基因在病例组和对照组中的分布频率统计学上存在显著差异（P=0.003）,rs10153674位点等位基因G与AIS的易感性升高有关。结合PUMC分型,rs10153674和rs1027478基因型在PUMCI型和对照组中的分布频率统计学上存在显著差异（P值分别为0.038,0.006）,rs10153674基因型G/G、rs1027478基因型A/G与PUMCI型的发生有关。结论 CALM2基因遗传变异可能与青少年特发性脊柱侧凸发生相关,有可能是影响AIS易感性的重要因素。PUMCI型AIS的发生可能与rs10153674和rs1027478基因型多态性有关。

英文摘要：

Objective To identify the relationship between CALM2 gene and adolescent idiopathic scoliosis（AIS）.Methods A hospital-based case-control design was applied in this study.A total of 107 patients diagnosed with adolescent idiopathic scoliosis admitted in Peking Union Medical College（PUMC）hospital and 107 controls were enrolled in this study.Genomic DNA was extracted from peripheral blood leukocytes of each subject.Based on genotype data from the international HapMap project,single nucleotide polymorphisms（SNPs）in calmodulin 2（CALM2）gene were initially chosen.Genotyping of all selected SNPs was done by VeraCode GoldenGate Genotyping Assay SNPstream technolofy.Haplotype frequencies were estimated and difference in haplotype distributions between cases and controls were assessed.Results SNP Allele-AIS：the allele frequency distributions of rs10153674 was statistically different between case group and control group（P=0.003）.The genotypes distributions of rs10153674 and rs1027478 were statistically different between PUMC I AIS group and control group（P=0.038,0.006 respectively）.Conclusion Genetic variants of CALM2 gene are associated with AIS and may play an important role in the development of AIS.The development of PUMC I AIS might be related to genotype polymorphisms of rs10153674 and rs1027478.