Human genetic selection on the MTHFR 677C>T polymorphism
2008

Genetic Selection on the MTHFR 677C>T Polymorphism

Sample size: 1305 publication Evidence: high

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)

10.1186/1471-2350-9-104

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