颈椎后纵韧带骨化症与COL11A2等基因多态性的关联性分析  

The gene polymorphisms of COL11A2 and other 11 genes in a Chinese population with ossification of the posterior longitudinal ligament of the spine

作　　者：倪娜[1] 刘文婷[2] 魏威[3] 陈春悦[3] 

机构地区：[1]杭州市第三人民医院检验科,310009 [2]浙江大学医学部细胞生物学与医学遗传学系,310058 [3]浙江省中西医结合医院,310003

出　　处：《中国优生与遗传杂志》2013年第10期16-19,共4页Chinese Journal of Birth Health & Heredity

基　　金：浙江省卫生厅科研项目(2010KYA168);杭州市科技局科研项目(20100733Q23)

摘　　要：目的颈椎后纵韧带骨化症(OPLL)是一种病因未明的骨科疾病,好发于日本和亚洲人群。近年来的研究认为,OPLL为一种遗传因素和环境因素共同作用所致的复杂疾病。我们选取了50例浙江地区汉族颈椎后纵韧带骨化症患者,以100例正常个体作为对照组,对已经有文献报道的与OPLL发病可能相关联的9个基因(COL11A2、COL6A1、COL17A1、ENPP1、TGF-β3、BMP-2、BMP-4、LEPR、ESR1)的11个多态性SNP位点进行了基因分型,探讨相关性。方法 PCR+Sanger DNA测序,将各个位点基因型的分布信息进行统计分析。结果未发现所研究的OPLL患者群体与上述9个基因的11个多态性SNP位点存在显著的相关性。结论 OPLL易感基因的鉴定,需要大样本量的研究以及全外显子组测序、连锁分析等方法的相结合,方能得出最终的结论。Objective ： Ossification of posterior longitudinal ligament of the spine （OPLL） is a bone disease with unknown etiology and has a high prevalence among Japanese and Asian populations. Research to date has identified genetic and environmental factors are both implicated in the pathogenesis of OPLL. Here, a total of 11 single nucleotide polymorphisms （SNPs） in 9 genes, COL11A2, COI/SA1, COL17A1, ENPP1, TGF - β3, BMP - 2, BMP - 4, LEPR and ESR1 were genotyped in 50 sporadic OPLL patients and 100 healthy controls for association analysis. Methods ： The SNP regions of genes were amplified by PCR and Sanger sequencing. Genotype frequencies of the SNPs were compared between the cases and control subjects with SPSS 13.0 software. Results ： No association was found between the SNPs and the OPLL population. Conclusions： Further studies on the large samples using whole exome sequencing, linkage analysis techniques are needed to reveal the susceptibility genes of this disease, avthjiang population.

关 键 词：颈椎后纵韧带骨化症 单核苷酸多态性 易感基因 

分 类 号：R681.5[医药卫生—骨科学]