BMP-4基因上两个多态性位点与颈椎后纵韧带骨化症的关联性研究

目的通过测定颈椎后纵韧带骨化症患者与对照组骨形态发生蛋白-4上的2个单核苷酸多态性位点序列,探讨骨形态发生蛋白-4与颈椎后纵韧带骨化（OPLL）的遗传关联性。方法 OPLL病例组和正常对照组各200例,利用PCR和直接测序法分析骨形态发生蛋白-4（BMP4）上2个单核苷酸多态性位点6007C〉T（rs17563）,3564C〉T（rs2855532）基因型及等位基因型的分布。应用SPSS13.0软件进行统计学分析。检验水准α=0.05,如果P〈0.05认为有统计学意义。结果两组间位点rs17563,rs2855532基因型与等位基因型差异具有统计学意义（P=0.013,0.000）。OPLL组中rs17563带C等位基因型与不带C等位基因型骨化椎体数量差异具有统计学意义P〈0.001,前者骨化椎体数量明显少于后者;rs2855532T＋等位基因型（TT TC）与T-等位基因型（CC）骨化椎体数量差异也有统计学意义（P〈0.05）,前者骨化椎体数量多于后者。结论骨形态发生蛋白-4上的两个单核酸多态性位点rs17563,rs2855532等位基因型的突变与颈椎后纵韧带骨化症的发生和发展有关。

Association of two polymorphisms on bone morphogenetic protein-4 gene with susceptibility to ossification of the posterior longitudinal ligament of the spine in Chinese patients.

Objective A case-control study was designed to explore whether two single nucleotide polymorphisms(SNPs) of the bone morphogenetic protein-4 gene(BMP-4) were related to the morbidity and severity of ossification of the posterior longitudinal ligament(OPLL) of the spine in Chinese patients.Methods The venous blood samples of 200 OPLL patients and 200 non-OPLL controls were collected.All experimental participants were matched in age-sex composition.The genomic deoxyribonucleic acid(DNA) was isolated from the ...