【摘要】 目的探讨VANGL1、FZD3和FZD6基因单核苷酸多态性(SNPs)位点间的交互作用对中国北方汉族人群神经管缺陷(NTDs)患病风险的影响。方法选取VANGL1基因2个SNPs(rs4 839 469和rs34 059 106),FZD3基因2个SNPs(rs2 241 802和rs28 639 533)以及FZD6基因3个SNPs(rs827 528、rs3 808 553和rs12 549 394),采用PCR扩增和测序的方法对135例NTDs患者和135例正常对照者进行基因分型,使用多因子降维法软件(MDR)分析基因-基因交互作用。结果 VANGL1基因rs4 839 469位点基因型分布在病例组与对照组之间有差异(P<0.05),FZD6基因rs3 808 553位点基因型分布在病例组与对照组之间有差异(P<0.05);MDR分析结果显示VANGL1、FZD3和FZD6基因交互作用存在于两位点模型(rs4 839 469-rs3 808 553)(OR=3.18,95%CI:1.85~5.44;χ2=18.39,P<0.0001),3位点模型(rs4 839 469-rs2 241 802-rs3 808 553)(OR=4.17,95%CI:2.43~7.14;χ2=28.5,P<0.0001)以及4位点模型(rs4 839 469-rs2 241 802-rs827 528-rs3 808 553)(OR=7.34,95%CI:3.98~13.54;χ2=45.3,P<0.0001)。结论 VANGL1、FZD3和FZD6基因存在交互作用,并可能增加NTDs的发病风险。更多还原

【Abstract】 Objective To identify the impact of gene-gene interaction among VANGL1,FZD3 and FZD6 on the risk of neural tube defects in Han population of northern China.Methods Two SNPs(rs4 839 469 and rs34 059106) within VANGL1,two SNPs(rs2 241 802 and rs28 639 533) within FZD3 and three SNPs(rs827 528,rs3 808553 and rs12 549 394) within FZD6 were genotyped in 135 NTD patients and 135 healthy controls.The gene-gene interaction among VANGL1,FZD3 and FZD6 was analyzed by Multifactor Dimensionality Reduction software.Results The frequency of genotypes of rs4 839 469 within VANGL1 and rs3 808 553 within FZD6 was significantly higher in patients than that in controls(P<0.05).MDR revealed that the significance were shown in patterns with 2 SNPs(rs4 839 469-rs3 808 553)(OR =3.18,95% CI:1.85 ~5.44;χ2= 18.39,P<0.0001),3 SNPs(rs4 839 469-rs2 241 802-rs3 808 553)(OR = 4.17,95% CI:2.43 ~ 7.14;χ2= 28.5,P<0.0001) and 4 SNPs(rs4 839 469-rs2 241 802-rs827 528-rs3 808 553)(OR = 7.34,95% CI:3.98 ~ 13.54;χ2= 45.3,P<0.0001).Conclusions The gene-gene interaction among VANGL1,FZD3 and FZD6 may increase the risk of NTDs.更多还原