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目的探讨环境暴露、FGF18、FGFR1、FGF10和PVRL2等基因多态性及其交互作用与非综合征性唇腭裂(NSCL/P)的关系。方法对75例NSCL/P患儿和75例非NSCL/P儿童调查了环境、遗传因素,用PCR-RFLP检测FGF18基因rs4043716位点、FGFR1基因rs13317、FGF10基因rs1448037以及PVRL2的rs39358、rs2075642位点基因型,进行单因素χ2分析和多因素Logistic回归分析。结果遗传因素、父亲文化、母亲孕早期感染史、孕早期服药史、母亲孕早期补充叶酸、FGF18基因rs4043716位点多态性与NSCL/P有关(P<0.05)。结论遗传因素、孕早期感染史、孕早期服药史、FGF18基因rs4043716位点多态性与NSCL/P发生有关,但未发现它们之间存在正交互作用。父亲文化、母亲孕早期补充叶酸是NSCL/P的保护因素。
Objective To investigate the relationship between environmental exposure, gene polymorphisms of FGF18, FGFR1, FGF10 and PVRL2 and their interaction with non-syndromic cleft lip and palate (NSCL / P). Methods 75 cases of NSCL / P children and 75 non-NSCL / P children were investigated for environmental and genetic factors. The rs4043716 locus of FGF18 gene, rs13317 of FGFR1 gene, rs1448037 of FGF10 gene and rs39358 and rs2075642 sites of PVRL2 were detected by PCR-RFLP Genotypes, single factor χ2 analysis and multivariate Logistic regression analysis. Results Genetic factors, father culture, history of mother ’s first trimester infection, medication during the first trimester of pregnancy, supplementation with folic acid in the first trimester of pregnancy, rs4043716 polymorphism of FGF18 gene were associated with NSCL / P (P <0.05). Conclusion The genetic factors, the history of infection in the first trimester, the history of taking medicine in the first trimester of pregnancy, the rs4043716 polymorphism of FGF18 gene are related to the occurrence of NSCL / P, but no orthogonal interaction exists between them. Fetal culture, mothers supplementation with folic acid during the first trimester is a protective factor for NSCL / P.