Molecular genetic analysis of human folate receptors in neural tube defects

Neural tube defects (NTDs) are the most common congenital malformations and are considered to have a multifactorial origin, having both genetic and environmental components. Periconceptional folate administration reduces the recurrence and occurrence risk by 70–100%. Recently we discovered the first genetic risk factors for NTDs: the 677 C→T and the 1298 A→C mutations in the methylenetetrahydrofolate reductase gene explaining at the most 35–50% of the protective effect of folate. In this study we further explored the genetic component of NTDs by analysing the coding region, including the intron–exon boundaries and signal sequences of the folate receptor genes by SSCP analysis. Among 39 patients with spina bifida (SB), 47 mothers with a child with SB, and 10 controls, no polymorphism was present in the folate receptor alpha (FR-α) gene or in the folate receptor beta (FR-β) gene.