Is the prevalence of MTHFR C677T polymorphism associated with ultraviolet radiation in Eurasia?

J Hum Genet. 2012 Dec;57(12):780-6. doi: 10.1038/jhg.2012.113. Epub 2012 Sep 20.


The methylenetetrahydrofolic acid reductase (MTHFR) C677T polymorphism causes an amino-acid change from alanine to valine and results in the enzyme becoming thermolabile and half decreased activity. Its prevalence varies among global population. We collected data about MTHFR C677T polymorphism prevalence from epidemiology studies, as well as ultraviolet (UV) radiations and some other climatological factors from the internet. The results of the correlation and quadric regression showed that there was inverse U-shape relationship between T allele frequency and UV radiation. The explanatory power of UV radiation was stronger than latitude and all climatological factors. Our results supported the hypothesis that the distribution pattern of MTFHR C677T polymorphism in Eurasia might be the result of interaction of genetic and environmental natural selection, especially the UV radiation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asia
  • Case-Control Studies
  • Europe
  • Gene-Environment Interaction
  • Human Migration / statistics & numerical data*
  • Humans
  • Meta-Analysis as Topic
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Polymorphism, Genetic / genetics*
  • Review Literature as Topic
  • Selection, Genetic / genetics*
  • Skin / radiation effects
  • Ultraviolet Rays*


  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)