DEFB-1基因多态性与甘肃裕固族人群龋病易感性的关联性研究  

Preliminary Research between Genetic Polymorphisms in the Beta Defensin 1 and Dental Caries Susceptibility

作　　者：岳海泉[1] 周建业[2] 苏琳涵[1] 胡晓潘[1] 许晋赢[3] 李志强[2] 余占海[1] 

机构地区：[1]兰州大学口腔医学院口腔修复科,甘肃兰州730000 [2]西北民族大学口腔医学院 [3]新加坡国立大学口腔医学院

出　　处：《口腔医学研究》2013年第7期650-653,共4页Journal of Oral Science Research

基　　金：甘肃省国际科技合作项目(编号:2009GS03605);民政部孤残儿童口腔疾病综合防治示范项目(编号:XB-MV-2012-BB-33)

摘　　要：目的:研究β防御素1基因(beta defensin 1,DEFB-1)中rs11362、rs2978862和rs5743407三个单核苷酸位点多态性与甘肃裕固族及汉族人群龋病易感性的关系。方法:在甘肃裕固族自治县选取两民族样本355例,病例组164例(汉族85例,裕固族79例);对照组(汉族86例,裕固族105例),采外周血提取DNA,利用核酸质谱技术检测3个位点的基因型,统计分析。结果:rs11362和rs2978862位点的基因型频率在裕固族病例组和对照组中有差异(P<0.05);rs11362位点的GA基因型频率病例组(29.1%)低于对照组(48.8%)[OR=0.438,95%CI=0.224-0.857](P<0.05);rs2978862位点的GA基因型频率病例组(25.3%)显著低于对照组(47.7%)[OR=0.396,95%CI=0.201-0.783](P﹤0.01);rs11362、rs2978862和rs5743407位点的基因型频率在裕固族与汉族间以及汉族人群中均无差异。结论:DEFB-1基因rs11362位点和rs2978862位点多态性可能与裕固族人群龋病易感性有关。Objective： To analyse the association between beta defensin 1 gene polymorphism and dental caries susceptibility in the population of Han and Yugur nationality.Methods： A total of 355 persons in Yugur autonomous counties of Gansu province were chosen.Peripheral blood DNA was extracted and detected.The distribution of the genotypes directly by using the method of Sequenom MassArray.The data were statistically analyzed.Results： All genotypes were in Hardy-Weinberg equilibrium range.A linkage disequilibrium was noted between three SNPs within DEFB1 gene.Both rs11362 and rs2978862 SNP genotype frequencies in case and control group of Yugur were statistically significant（P0.05）,and the frequency of rs11362 GA genotype was lower in Yugur nationality case group（29.1%） than those in controls（48.8%） with OR=0.438（95% confidence interval =0.224-0.857）,and rs2978862 GA genotype was lower in Yugur nationality case group（25.3%） than those in controls（47.7%） with OR=0.396（95% confidence interval =0.201-0.783）.The three genotype of beta defensin 1 are not significant different in Han nationality.Conclusion： These results suggest that genetic polymorphism in the locus of rs11362 and rs2978862 of DEFB1 gene might be associated with dental caries susceptibility in Yugur population.

关 键 词：β-防御素1 单核苷酸多态性 龋病 汉族 裕固族 

分 类 号：R781.1[医药卫生—口腔医学]