Ucp2 Gene Polymorphism And Neural Tube Malformations Relationship

Objectives: The purpose was to find out some suspectable risk factors (including genetic, environmental, nutritious factors) of neural tube defects (NTDs) in Shanxi Province where the incidence of NTDs is the highest in China. Meanwhile, it was explored that the correlation between uncoupling protein 2 (UCP2) gene in mother and susceptibility to NTDs in offspring. The interactions among these risk factors were analyzed and the functions of these factors were detected in offspring NTDs.Methods: 1:1 matched case-control study was used. Objects were chose from 25 hospitals in 6 regions with high incidence of NTDs in Shanxi Province. All the objects were divided into two groups: 116 deliveries with NTDs as a case group and 116 deliveries with normal newborns as a control group. All the objects were investigated in uniform questionnaires about suspectable risk factors for NTDs and were genotyped for UCP2 D/I and UCP2 A55V polymorphism by (polymerase chain reaction restriction fragment length polymorphism analysis, PCR-RFLP) method. All the data were analyzed by SPSS11.0 statistical software.The risk factors of NTDs were analyzed by the conditional Logistic regression.Results: (1) Comparing UCP2 gene frequency between the two groups, it was showed that three genotypes were found in UCP2 D/I. The frequencies of D/D, D/I, I/I were 87.9%, 11.2%, 0.9% in case group respectively, 69.0%, 24.1%, 6.9% in control group. There was significant difference between two groups at 0.05 level (χ2=8.34,P<0.05). Furthermore, with the increase of the number of allele D in mother, the risk of offspring NTDs was elevated. Allele frequencies of D and I were respectively 93.5%, 6.5% in case group, 81.0% and 19.0% in the control group. The difference was remarkable between two groups.(χ2=16.33,P<0.01).(2) Comparing UCP2 gene frequency between the two groups, it was showed that only two genotypes were found in UCP2 A55V. The frequencies of AA, AV were respectively 33.6% and 66.4% in case group, 25.0% and 75.0% in control group (χ2=2.08,P>0.05). Allele frequencies of A and V were respectively 66.8 % and 33.2% in case group, 62.5% and 37.5% in control group (χ2=0.943,P>0.05). The discrepancy was remarkable.(3) By univariate conditional Logistic regression analysis, it was indicated that 16 factors were correlated with NTDs (P<0.05) in the levelα=0.05. By multi-variables conditional Logistic regression analysis, it was showed that there were four factors were correlated with NTDs: frequency of pregnancy (OR=2.13), BMI (OR=1.40), taking germinated potato frequently (OR=2.82) and UCP2 D/I mutation (OR=2.32).(4) Analyzing interaction between factors, it was showed that there was negative interaction...