CAJ | 학술논문

目的探讨环境暴露因素、骨形态生成蛋白4(BMP4)基因、转化生长因子β3(transforming growth factor beta-3,TGF-β3)基因之间的交互作用在非综合征性唇腭裂(nonsyndromic cleft lip and cleft palate,NSCLP)发生中的可能作用.方法通过问卷调查获取环境暴露资料.用聚合酶链反应(PCR)-限制性片段长度多态性(restriction fragment length polymorphism,RFLP)技术对对照组(200例)和NSCLP组(200例)各基因位点的多态性进行检测.采用多因子降维法(multifactor djmensionality reduction,MDR)分析基因之间、基因与环境之间的交互作用关系,并对筛选的交互作用关系用Logistic回归进行验证.结果 BMP4 T538C、TGF-β3 C641A和TGF-β3G15572-三个单核苷酸多态性(single nucleotide polymorphism,SNP)位点间的交互作用与NSCLP的发生无关联.基因与环境交互作用分析发现,BMP4 T538C与母亲妊娠早期被动吸烟、母亲妊娠早期感染史对NSCLP的发生具有交互作用;TGF-β3G15572-与母亲妊娠早期被动吸烟、母亲妊娠早期感染史、父亲知晓妊娠前吸烟、父亲知晓妊娠前饮酒、母亲妊娠早期补充维生素对NSCLP的发生具有交互作用.经Logistic回归验证,结果一致.结论 NSCLP是基因与环境因素共同作用的结果,易感基因多态性影响着个体对环境因素的反应,研究它们之间的相互关系对阐明NSCLP的病因及发病机制具有重要意义.
목적 탐토배경폭로인소、골형태생성단백4(BMP4)기인、전화생장인자β3(transforming growth factor beta-3,TGF-β3)기인지간적교호작용재비종합정성진악렬(nonsyndromic cleft lip and cleft palate,NSCLP)발생중적가능작용.방법 통과문권조사획취배경폭로자료.용취합매련반응(PCR)-한제성편단장도다태성(restriction fragment length polymorphism,RFLP)기술대대조조(200례)화NSCLP조(200례)각기인위점적다태성진행검측.채용다인자강유법(multifactor djmensionality reduction,MDR)분석기인지간、기인여배경지간적교호작용관계,병대사선적교호작용관계용Logistic회귀진행험증.결과 BMP4 T538C、TGF-β3 C641A화TGF-β3G15572-삼개단핵감산다태성(single nucleotide polymorphism,SNP)위점간적교호작용여NSCLP적발생무관련.기인여배경교호작용분석발현,BMP4 T538C여모친임신조기피동흡연、모친임신조기감염사대NSCLP적발생구유교호작용;TGF-β3G15572-여모친임신조기피동흡연、모친임신조기감염사、부친지효임신전흡연、부친지효임신전음주、모친임신조기보충유생소대NSCLP적발생구유교호작용.경Logistic회귀험증,결과일치.결론 NSCLP시기인여배경인소공동작용적결과,역감기인다태성영향착개체대배경인소적반응,연구타문지간적상호관계대천명NSCLP적병인급발병궤제구유중요의의.
Objective To investigate the effects of interactions among environmental factors, bone morphogenetic protein-4 ( BMP4 ) and transforming growth factor beta-3 ( TGF-β3 ) polymorphisms on nonsyndromic cleft lip and cleft palate (NSCLP) . MethodsThe data of environmental exposures were collected with questionnaires.Genotypes were determined with techniques of polymerase chain reactionrestriction fragment length polymorphism. Interactions between genes, environmental factors and NSCLP were analyzed using multifactor dimensionality reduction (MDR) method. The interactions were validated by logistic regression analysis. ResultsThere was no correlation between three single nucleotide polymorphism (SNP) associated with NSCLP. The developmental accident of NSCLP had higher risk in the interaction between BMP4 T538C, maternal passive smoking and infection in first trimester pregnancy, as well as in the interaction of six factors between TGF-β3 G15572-, maternal passive smoking, infections, multivitamin supplement in the first trimester pregnancy, paternal smoking and high risk drinking before realizing pregnancy than in other interactions of environmental factors. The results could be validated by logistic regression analysis.Conclusions The NSCLP is induced by the interactions between genes and environmental risk factors.