Abstract: ObjectiveTo explore risk factors and roles of multifactors in high incidence of neural tube defects(NTDs)in Guizhou province.MethodsA 1:1-matched case-control study was conducted in 110 infants with NTDs and 110 healthy infants randomly selected from 63 hospitals in 9 regions with high incidence of NTDs in Guizhou province.Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)and PCR product sequencing validation were used to detect polymorphisms of HKⅡC736G,INSRG6244A,and PC-1K121Q.The data were analyzed with SPSS 16.0 statistical software.ResultsThe results of χ² analysis showed that there was a significant difference in the distribution of INSR G6244A genotyp between the cases and controls(P<0.05),but no significant difference in the distributions of HKⅡ exon 15 and PC-1K121Q gene polymorphism(P>0.05).Multivariate conditional logistic regression analyses indicated that vomiting during pregnancy,germinated potato intake,gestational diabetes mellitus,and INSR G6244A mutation were risk factors of NTDs,with the odds ratio(OR)(95%confidence interval95%CI)of 3.62(1.46-8.95),4.01(1.65-9.72),3.65(1.41-9.48),and 3.10(1.52-6.33),while,maternal high education level was a protective factor,with the OR(95%CI)of 0.45(0.28-0.73).ConclusionThe results suggest that vomiting during pregnancy,germinated potato intake,gestational diabetes mellitus,and INSR G6244A polymorphism are associated with NTDs,but mother's high education degree was an independent protective factor for NTDs in Guizhou province.