C677T and A1298C MTHFR polymorphisms in the etiology of neural tube defects in Spanish population

BACKGROUND AND 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. SUBJECTS AND METHOD: 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 11 (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.