Servicio de Información Comunitario sobre Investigación y Desarrollo - CORDIS

Inverse association between OFC and the MTHFR 677 variant allele (CT or TT) in the child

Methylene tertrahydro folate reductase (MTHFR) is a key enzyme in the folic acid metabolic pathway, and the 677 C - T polymorphism in the 5-10 MTHFR gene has been implicated in a number of congenital birth defects, including cleft lip with or without cleft palate (CL/P) in some populations, but not others. In the EUROCRAN study, it was interesting to find that the mutation giving the rare variant of the enzyme is in the affected infants genome. Therefore, our results reinforce the idea that the maternal MTHFR genotype plays a significant role in susceptibility to CL/P, but its teratogenic effect depends on the genotype of the offspring. This finding has potential implications for the aetiology and pathogenesis of cleft lip and palate.

Contacto

Peter MOSSEY, (Professor)
Tel.: +44-1382-425761
Fax: +44-1382-206321
Correo electrónico
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