Association between MTHFD1 polymorphisms and neural tube defect susceptibility

摘要: Abstract Objectives Neural tube defect (NTD) is a common disease among neonates with multiplex symptom and complex origins, the exact mechanism of NTD has not been definitely elucidated. Nevertheless, it hypothesized that risk can be prevented by periconceptional folic acid in folate metabolism. The methylenetetrahydrofolate dehydrogenase (MTHFD1) gene proved to play an important role metabolism, which was strongly associated high for NTD. We focused on three metabolism-related single-nucleotide polymorphisms (SNPs) MTHFD1 evaluate associations between susceptibility. Methods genotyped blood samples from 222 specimens (including 122 NTD-affected infants 100 healthy controls) case–control study. investigated association selected tag-SNPs gene: 401A > G (rs1950902), 2305C > T (rs17857382) 1958G > A (rs2236225) SNapShot method. These SNPs were identified Haploview 4.2 software HapMap databases, then these evaluated Mann–Whitney test, one-way analysis variance (ANOVA) chi-square test. Furthermore, meta-analysis also performed. Results In our study, increased observed (AA vs. GG: OR = 2.63, 95% CI = 2.61–5.70; AA GG + GA: OR = 2.10, CI = 1.07–4.14; A G: OR = 1.62, CI = 1.11–2.36). However, other two (401A > G 2305C > T) displayed no statistically significant risk. overall result indicated variant might genetic susceptible factor Caucasian population. Conclusions Our implicated significantly susceptibility Chinese addition, homozygote carriers more likely suffer NTD, compared others GA or GG genotypes. Validation effect functional impact this polymorphism needed future investigations.