环境暴露和FGF18、FGFR1、FGF10和PVRL2等基因多态性与NSCL/P的关系  

Relationship of environmental exposure and gene polymorphisms of FGF18,FGFR1,FGF10 and PVRL2 with NSCL/P

作　　者：程宏宇[1] 万伟东[2] 周小平 刘小俊[2] 郭芳芳[2] 杨顺路[2] 崔毓桂 刘嘉茵 

机构地区：[1]南京医科大学附属淮安市第一人民医院整形烧伤外科,223300 [2]东南大学附属中大医院整形外科 [3]南京医科大学第一附属医院江苏省妇幼卫生保健中心

出　　处：《江苏医药》2010年第20期2361-2363,共3页Jiangsu Medical Journal

基　　金：江苏省卫生厅医学科技发展基金资助项目(H200513)

摘　　要：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 of environmental exposure and gene polymorphisms of FGF18,FGFR1,FGF10 and PVRL2 with nonsyndromic cleft of lip with or without palate（NSCL/P）.Methods Seventy-five patients with NSCL/P（group A） and 75 subjects without NSCL/P（group B） were investigated about the environmental exposure and genetic factors,their genotypes of FGF18,rs4043716 and FGFR1,rs13317 and FGF10,rs1448037 and PVRL2,rs392584 and PVRL2,rs2075642 were detected by PCR-RFLP.Analysis of variance （ANOVA） study and nonconditional multiplicity logistic regression model analysis were used to analyze the relationships between gene polymorphisms of FGF18,FGFR1,FGF10,PVRL2 and their interactions with NSCL/P.Results Genetic family history,fathers′education background,infection history,medication history and folic acid supplement in early-pregnancy,polymorphism of rs4043716 on FGF18 were closely related with NSCL/P（P〈0.05）.Conclusion Genetic family history,infection history and medication history in early-pregnancy polymorphism of rs4043716 on FGF18 are the predisposing factors.There is no positive interaction noted between any two of the above factors.While fathers′education background and folic acid supplement are protecting factors for NSCL/P.

关 键 词：非综合征性唇腭裂 基因多态性 FGF PVRL2 

分 类 号：R782[医药卫生—口腔医学]