Genetic Selection on the MTHFR 677C>T Polymorphism
Author Information
Author(s): Mayor-Olea Álvaro, Callejón Gonzalo, Palomares Arturo R, Jiménez Ana J, Gaitán María Jesús, Rodríguez Alfonso, Ruiz Maximiliano, Reyes-Engel Armando
Primary Institution: University of Malaga
Hypothesis
The study aims to analyze changes in the allelic frequencies of the MTHFR 677C>T polymorphism in a Spanish population, including samples from spontaneous abortions.
Conclusion
The study detected genetic selection in favor of the T allele, likely due to increased fetal viability associated with higher folate intake during the periconceptional period.
Supporting Evidence
- The frequency of the T allele increased from 0.38 to 0.47 in subjects born in the last quarter of the century.
- The frequency of the TT genotype rose from 0.14 to 0.24 in the same group.
- The CC genotype was found to be about tenfold lower in spontaneous abortion samples compared to controls.
Takeaway
This study found that a specific gene variant is becoming more common because it helps babies survive better when their mothers take more vitamins.
Methodology
1305 subjects were genotyped for the 677C>T polymorphism using allele specific real-time PCR, comparing living subjects with fetal samples from spontaneous abortions.
Participant Demographics
The study included 1305 subjects, with 697 women and 608 men, all Caucasian and residents of southern Spain.
Statistical Information
P-Value
p<0.001
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
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