Lin Jian-yan, Luan Rong-sheng, Guo Ze-qiang, Lin Xin-qin, Tang Hong-yang, Chen Yuan-ping
Department of Epidemiology, West China School of Public Health, Sichuan University, Chengdu 610041, China.
Zhonghua Kou Qiang Yi Xue Za Zhi. 2010 Oct;45(10):596-600.
To investigate the effects of interactions among environmental factors, bone morphogenetic protein-4 (BMP4) and transforming growth factor beta-3 (TGF-β(3)) polymorphisms on nonsyndromic cleft lip and cleft palate (NSCLP).
The data of environmental exposures were collected with questionnaires. Genotypes were determined with techniques of polymerase chain reaction-restriction 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.
There 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-β(3) 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.
The NSCLP is induced by the interactions between genes and environmental risk factors.
探讨环境因素、骨形态发生蛋白4（BMP4）及转化生长因子β3（TGF-β3）基因多态性之间的相互作用对非综合征性唇腭裂（NSCLP）的影响。
通过问卷调查收集环境暴露数据。采用聚合酶链反应-限制性片段长度多态性技术确定基因型。运用多因素降维法（MDR）分析基因、环境因素与NSCLP之间的相互作用。通过逻辑回归分析验证相互作用。
与NSCLP相关的三个单核苷酸多态性（SNP）之间无相关性。在BMP4 T538C、母亲孕期被动吸烟及孕早期感染之间的相互作用中，以及在TGF-β3 G15572-、母亲孕期被动吸烟、感染、孕早期补充多种维生素、父亲吸烟及孕前高危饮酒这六个因素之间的相互作用中，NSCLP发生风险高于其他环境因素相互作用组。结果可通过逻辑回归分析验证。
NSCLP由基因与环境危险因素之间的相互作用诱发。
