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

Jennings, Barbara A. ORCID: https://orcid.org/0000-0003-3792-9182, Willis, Gavin A., Skinner, Jane and Relton, Caroline L. (2010) Genetic selection? A study of individual variation in the enzymes of folate metabolism. BMC Medical Genetics, 11.

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Abstract

Background: Genetic variation in folate metabolism has been associated with survival in utero, the success of in vitro fertilisation, multiple pathologies and longevity. Methods: 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 MTHFR and TYMS loci was carried out to investigate a putative gene-gene interaction that was first observed in an elderly male population from Norfolk. Results: 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 TYMS polymorphism is less in individuals who are homozygous for the T allele of MTHFR 677 than in individuals homozygous for the C allele of MTHFR 677 (p = 0.02). Conclusions: 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 in utero it is possible that maternal folic acid intake may over-ride such genetic selection.

Item Type: Article
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups: Faculty of Medicine and Health Sciences > Research Groups > Cancer Studies
Faculty of Science > Research Groups > Norwich Epidemiology Centre
Faculty of Medicine and Health Sciences > Research Groups > Norwich Epidemiology Centre
Faculty of Medicine and Health Sciences > Research Groups > Public Health and Health Services Research (former - to 2023)
Faculty of Medicine and Health Sciences > Research Groups > Epidemiology and Public Health
Faculty of Medicine and Health Sciences > Research Centres > Population Health
Faculty of Medicine and Health Sciences > Research Centres > Lifespan Health
Depositing User: EPrints Services
Date Deposited: 25 Nov 2010 11:12
Last Modified: 19 Oct 2023 00:34
URI: https://ueaeprints.uea.ac.uk/id/eprint/14505
DOI: 10.1186/1471-2350-11-18

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