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Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway.
- Source :
- Italian Journal of Pediatrics; 3/14/2019, Vol. 45 Issue 1, pN.PAG-N.PAG, 1p
- Publication Year :
- 2019
-
Abstract
- Background: Neural tube defects (NTDs) are birth defects of the brain, spine, or spinal cord invoked by the insufficient intake of folic acid in the early stages of pregnancy and have a complex etiology involving both genetic and environmental factors. So the study aimed to explore the association between alterations in maternal one-carbon metabolism and NTDs in the offspring. Methods: We conducted a case-control study to get a deeper insight into this association, as well as into the role of genetic polymorphisms. Plasma concentrations of folate, homocysteine (Hcy), S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH) and genotypes and alleles distributions of 52 SNPs in 8 genes were compared for 61 women with NTDs-affected offspring and 61 women with healthy ones. Results: There were significant differences between groups with regard to plasma folate, SAM, SAH and SAM/SAH levels. Logistic regression results revealed a significant association between maternal plasma folate level and risk of NTDs in the offspring. For MTHFD1 rs2236225 polymorphism, mothers having GA genotype and A allele exhibited an increased risk of NTDs in the offspring (OR = 2.600, 95%CI: 1.227–5.529; OR = 1.847, 95%CI: 1.047–3.259). For MTHFR rs1801133 polymorphism, mothers having TT and CT genotypes were more likely to affect NTDs in the offspring (OR = 4.105, 95%CI: 1.271–13.258; OR = 3.333, 95%CI: 1.068–10.400). Moreover, mothers carrying T allele had a higher risk of NTDs in the offspring (OR = 1.798, 95%CI: 1.070–3.021). For MTRR rs1801394 polymorphism, the frequency of G allele was significantly higher in cases than in controls (OR = 1.763, 95%CI: 1.023–3.036). Mothers with NTDs-affected children had higher AG genotype in RFC1 rs1051226 polymorphism than controls, manifesting an increased risk for NTDs (OR = 3.923, 95%CI: 1.361–11.308). Conclusion: Folic acid deficiency, MTHFD1 rs2236225, MTHFR rs1801133, MTRR rs1801349 and RFC1 rs1051226 polymorphisms may be maternal risk factors of NTDs. [ABSTRACT FROM AUTHOR]
- Subjects :
- CARBON metabolism
ADENOSINES
ADENOSYLMETHIONINE
ALLELES
CONFIDENCE intervals
FOLIC acid
FOLIC acid deficiency
GENETIC polymorphisms
METABOLISM
NEURAL tube defects
OXIDOREDUCTASES
HOMOCYSTEINE
LOGISTIC regression analysis
CASE-control method
MEMBRANE transport proteins
ODDS ratio
GENOTYPES
DISEASE risk factors
Subjects
Details
- Language :
- English
- ISSN :
- 17208424
- Volume :
- 45
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Italian Journal of Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 135295001
- Full Text :
- https://doi.org/10.1186/s13052-019-0630-1