Genetic selection? A study of individual variation in the enzymes of folate metabolism

• Main Authors: Relton Caroline L (Author), Skinner Jane (Author), Willis Gavin A (Author), Jennings Barbara A (Author)
• Format: Book
• Published: BMC, 2010-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p>Abstract</p> <p>Background</p> <p>Genetic variation in folate metabolism has been associated with survival <it>in utero</it>, the success of <it>in vitro </it>fertilisation, multiple pathologies and longevity.</p> <p>Methods</p> <p>We have looked at the prevalence of genetic variants of the enzymes MTHFR and TYMS in 2,898 DNA samples derived from five cohorts collected in the United Kingdom. The simultaneous analysis of genetic variants of the <it>MTHFR </it>and <it>TYMS </it>loci was carried out to investigate a putative gene-gene interaction that was first observed in an elderly male population from Norfolk.</p> <p>Results</p> <p>We have made a consistent observation in five population cohorts; the proportion of individuals who are homozygous for the 2R allele of the 5'UTR <it>TYMS </it>polymorphism is less in individuals who are homozygous for the T allele of <it>MTHFR </it>677 than in individuals homozygous for the C allele of <it>MTHFR </it>677 (p = 0.02).</p> <p>Conclusions</p> <p>These data may suggest a gene-gene interaction and could be evidence of genetic selection, with some pregnancies more or less viable as a consequence of genetic variation. If these genetic phenomena affect the way folate is handled at the cellular level <it>in utero </it>it is possible that maternal folic acid intake may over-ride such genetic selection.</p>

Item Description

10.1186/1471-2350-11-18
1471-2350