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[Genetic risk factors of neural tube defects]
Elzbieta Sliwerska1, Agnieszka Szpecht-Potocka
1Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17A, 01-211 Warszawa, Poland.
Abstract:
Neural tube defects (NTDs) are a group of diseases caused by a failure of closure of the neural tube. Its aetiology contains both environmental and genetic factors. NTDs have a polygenic background. Genes, which are linked with NTDs occurrence, are both directly and indirectly connected with controlling the process of closure of the neural tube. Ones of those are genes of metabolism of folic acid as MTHFR, MTR, MTRR, CBS, MTHFD, folic acid receptors (FR) regulator genes from PAX family, T, PDGFRA and BRCA1 genes.