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

BMC Medical Genetics

Research Article

Gavin A Willis¹  Caroline L Relton²  Jane Skinner³  Barbara A Jennings³ 

[1] Department of Molecular Genetics, Norfolk and Norwich University Hospital, NR4 7UY, Norwich, UK;Institute for Ageing and Health and Human Nutrition Research Centre, Newcastle University, Royal Victoria Infirmary, NE1 4LP, Newcastle upon Tyne, UK;School of Medicine, Health Policy and Practice, University of East Anglia, NR4 7TJ, Norwich, UK;

关键词: Homocysteine;    Down Syndrome;    Genetic Selection;    Folate Metabolism;    MTHFR Genotype;   

DOI  :  10.1186/1471-2350-11-18

 received in 2009-06-02, accepted in 2010-02-01,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundGenetic variation in folate metabolism has been associated with survival in utero, the success of in vitro fertilisation, multiple pathologies and longevity.MethodsWe 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.ResultsWe 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).ConclusionsThese 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.

【 授权许可】

CC BY   
© Jennings et al; licensee BioMed Central Ltd. 2010