侵袭性牙周炎维生素D受体基因多态性的FBAT分析

FBAT analysis of polymorphisms of vitamin D receptor (Taq Ⅰ and Fok Ⅰ) in aggressive periodontitis families

目的:运用家系为基础的相关性检验(family based associated test,FBAT)方法,分析侵袭性牙周炎(aggressive periodontitis,AgP)与维生素D受体基因多态性(TaqⅠ和FokⅠ)的关联。方法:纳入93个核心家系的93个先证者和155个一级亲属,先证者和亲属VDR多态性位点的基因分型联合应用聚合酶链式反应(polymerase chain reaction,PCR)和限制性片段长度多态性(restriction fragment length polymorphism,RFLP)法完成。结果:研究人群的T和t等位基因频率分别为94.6%和5.4%,未发现tt基因型,先证者父亲的t等位基因频率显著高于母亲(9.8%vs1.6%,P=0.005);研究人群的F和f等位基因频率分别为57.1%和42.9%。FBAT检验的加性模型、隐性模型和显性模型均未显示VDR TaqⅠ和FokⅠ位点的基因多态性与AgP相关(P>0.05)。结论:本研究对中国人AgP家系成员VDR基因多态性进行了初步分析,FBAT检验的结果未显示VDR TaqⅠ和FokⅠ位点与AgP相关,其中VDR TaqⅠ位点有信息的家系数目较少可能影响FBAT的分析结果。

Objective：To analyze the correlation between polymorphisms of the vitamin D receptor gene（Taq Ⅰ and Fok Ⅰ） and the aggressive periodontitis by FBAT method.Methods： 93 AgP nuclear families including 93 probands and their 155 relatives were recruited.The genotype frequency and polymorphism for VDR for the patients and their pedigree were detected by using polymerase chain reaction（PCR） combined with restriction fragment length polymorphism（RFLP）.Results： The frequency of allele T and t accounted for 94.6 % and 5.4 % in the total populations.No tt genotype were detected.The fathers of probands carried more allele t than the mothers（9.8% vs 1.6%,P=0.005）.The frequency of allele F and f accounted for 57.1 % and 42.9 % in the total populations.The result of family based associated test（FBAT） including additive model,dominant model and recessive model showed that different alleles of Taq Ⅰ and Fok Ⅰ had no correlation with the onset of AgP（P〉0.05）.Conclusion： This was the first time to detect the VDR gene polymorphisms in Chinese families.The result of FBAT analysis can not show the correlation between vitamin D receptor gene polymorphisms（Taq Ⅰ and Fok Ⅰ） and the onset of AgP.