转化生长因子β3基因与骨形成蛋白4基因交互作用与唇腭裂的关联性

Gene-gene interaction between transforming growth factor beta 3 and bone morphogenetic protein 4 in cleft lip with or without cleft palate

背景:课题组的前期研究发现中国汉族人群唇腭裂的发病与转化生长因子β3基因多态性无关联,但与骨形成蛋白4基因多态性有关。目的:探讨骨形成蛋白4T538C,转化生长因子β3C641A和G15572-之间的交互作用与唇腭裂发生的关联性。方法:纳入2007-03/2008-08在贵阳医学院附属医院口腔颌面外科以及百色市人民医院口腔科就诊的200例唇腭裂患者作为病例组,同时选取同时期的外伤和骨折患者200例作为对照。利用PCR-RFLP进行骨形成蛋白4T538C,转化生长因子β3C641A和G15572-的基因型检测,利用多因子降维法对基因分型结果进行交互作用分析。结果与结论:骨形成蛋白4T538C基因型和等位基因的分布在唇腭裂组和对照组之间均存在显著性差异(P<0.05)。转化生长因子β3C641A和G15572-两基因位点在两组之间差异无显著性意义(P>0.05)。交互作用分析显示,所有因子的交互作用模型均无显著性意义(P>0.05)。说明骨形成蛋白4T538C,转化生长因子β3C641A和G15572-在唇腭裂发病中不存在交互作用。

BACKGROUND：Our previous studies have demonstrated that cleft lip with or without cleft palate （CL/P） is associated with the polymorphism of bone morphogenetic protein 4 （BMP4） rather than transforming growth factor β3 （TGFβ3）.OBJECTIVE：To elucidate the interactions among T538C for BMP4,C641A and G15572-for TGFβ3 in CL/P.METHODS：The genotypes of BMP4 T538C,TGFβ3 C641A and TGFβ3 G15572-were detected in 200 CL/P patients and 200 controls using a polymerase chain reaction-restriction fragment length polymerase （PCR-RFLP） strategy.The interaction effects among these three studied loci were analyzed using the multifactor dimensionality reduction （MDR） method.RESULTS AND CONCLUSION：Significant association of between genotype and allele distributions of the BMP4T538C and CL/P was revealed （P〈0.05）,while no significant association of TGFβ3C641A and 15572G/-genotype or allele distribution was found （P〈0.05）.In interaction analysis,significance level of all models was larger than 0.05,which shown no existence of interaction effect among BMP4T538C,TGFβ3 C641A and G15572-.