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MTHFR C677T and A1298C Gene Variants in Patients with Turner Syndrome and Their Mothers
Izabel Maryalexandra Rios-Flores1, Lucía Flores-Contreras1, Lucina Bobadilla-Morales2,3
1Tonalá University Center, University of Guadalajara, Guadalajara, Mexico.
Background:
It has been proposed that there is a relationship between chromosomal nondisjunction and folate metabolism. Previous studies in mothers of girls with Turner syndrome (TS) and TS patients have suggested that 5,10-methylentetrahydrofolate reductase (MTHFR) C677T and A1298C gene variants might contribute to the risk of TS. However, data in different populations have yielded contradictory results.
Aim:
Here, we design a case-control study to evaluate the MTHFR C677T and A1298C gene variants in TS patients and their mothers as potential risk factors for TS.
Materials And Methods:
Using the TaqMan allelic discrimination assay, the frequency of the MTHFR C677T and A1298C gene variants was compared in two study groups, one of 54 girls with TS versus 93 control girls and another of 49 mothers of girls with TS versus 97 control mothers.
Results:
The allele and genotype frequencies of the MTHFR C677T and A1298C variants were not significantly different nor showed association among TS patients compared with control girls, nor among TS mothers compared with control mothers.
Conclusions:
The risk of having a child with TS did not appear to be associated with the MTHFR C677T and A1298C variants in the studied population.
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