[C677T and A1298C MTHFR polymorphisms in the etiology of neural tube defects in Spanish population].
OBJECTIVE
The etiology of neural tube defects (NTDs) is multifactorial. The presence of mutated genotypes of C677T and A1298C polymorphisms, and their combined heterozygosity, have been considered risk factors for the occurrence and recurrence of NTDs in some populations.


METHODS
This case-control study included 159 healthy controls, 27 NTDs patients, 28 patients' mothers and 23 siblings. The polymorphism study was performed by PCR. For fragment digestion, we used the restriction enzymes Hinf I (C677T) and Mbo II (A1298C).


RESULTS
There was no significant difference (p = 0.991) in C677T genotypes between controls (CC: 35%, CT: 50% and TT: 15%) and patients (37, 52 and 11%, respectively), patients' mothers (39, 50 and 11%, respectively) and siblings (35, 48 and 17%, respectively). The prevalence of A1298C genotypes in controls (AA: 49%, AC: 45% and CC: 6%) was similar (p = 0.917) to the prevalence in patients (41, 56 and 4%, respectively), patients' mothers (43, 50 and 7%, respectively) and siblings (52, 39 and 9%, respectively).


CONCLUSIONS
The absence of differences in the two polymorphisms between these groups makes us conclude that there is no association with NTDs in the Spanish population.
Gutiérrez Revilla
José Ignacio
JI
Sección de Genética. Servicio de Bioquímica Clínica. Hospital Universitario Miguel Servet. Zaragoza. España. joseignaciogutierrez@redfarma.org
Pérez Hernández
Flora
F
Calvo Martín
M Teresa
MT
Tamparillas Salvador
Manuel
M
Gracia Romero
Jesús
J
D016022:Case-Control Studies; D005838:Genotype; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009436:Neural Tube Defects / Q000235:genetics*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D013030:Spain
D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
Implicación de los polimorfismos C677T y A1298C del gen MTHFR en el desarrollo de los defectos del tubo neural en la población española.