VDR基因单核苷酸多态性与大骨节病关联分析  

Association Analysis between Polymorphism in VDR and Kashin-Beck Disease

作　　者：张利[1] 郭雄[2] 王磊[3] 

机构地区：[1]西安交通大学医学院宗濂书院,临床87班710061 [2]公卫系地方病研究所暨环境与疾病相关基因教育部重点实验室 [3]南京医科大学附属杭州市第一人民医院骨科,310006

出　　处：《医学研究杂志》2013年第3期21-24,共4页Journal of Medical Research

基　　金：国家自然科学基金资助项目(81201384);浙江省自然科学基金资助项目(LQ12H06005);西安交通大学本科生科研训练和实践创新基金资助项目(2011082);国家级大学生创新性实验计划课题资助项目(101069829)

摘　　要：目的探讨VDR基因2个SNP位点多态性与大骨节病的关联关系。方法选取64例大骨节病患者和60例健康人群为病例组和对照组,对所选基因的两个SNP位点进行基因分型,计算相应人群中2个位点的基因型频率、单位点等位基因频率,比较各组间基因型频率、单位点等位基因频率的差异。结果 rs2254210和rs2189480在基因型频率、单位点等位基因频率及单倍型重构分析中与大骨节病均无显著性关联。结论 在后续的研究中进一步增大样本量和SNP标记密度,进行全基因关联分析,以验证VDR基因与大骨节病的相关性。Objective To investigate the association between the polymorphisms of two SNP loci of vitamin D receptor （VDR） gene and Kashin - Beck disease（KBD）. Methods We classified the two SNP loci of VDR gene by MassARRAY iPLEX Gold SNP among the 64 KBD patients and 60 healthy controls,calculated and compared the genotypic frequency of the two groups to find the potential asso- ciation between these polymorphisms and KBD. Results The correlation analysis based on single locus and haplotypes in rs2254210 and rs2189480 showed no significant association with KBD. Conclusion We should increasing the sample size and the SNP mark density in the following research, to carry on the entire gene connection analysis and confirm the relevance between VDR gene and Kashin - Beck disease.

关 键 词：单核苷酸多态性 大骨节病维 生素D受体 

分 类 号：R681.02[医药卫生—骨科学]