We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A common insertion/deletion polymorphism of the thymidylate synthase (TYMS) gene is a determinant of red blood cell folate and homocysteine concentrations.
- Authors
Kealey, Carmel; Brown, Karen; Woodside, Jayne; Young, Ian; Murray, Liam; Boreham, Colin; McNulty, Helene; Strain, J.; McPartlin, Joseph; Scott, John; Whitehead, Alexander
- Abstract
Substantial evidence suggests that a low folate/high homocysteine phenotype is pathogenic. We analyzed the impact of the thymidylate synthase (TYMS) 3'UTR ins/del polymorphism on folate and homocysteine levels and assessed the relationship between theTYMS3'UTR ins/del polymorphism and key genetic and lifestyle variables. Among non-smokers only, theTYMS3'UTR ins/del polymorphism was significantly associated with red blood cell folate (RBC folate;P=0.002) and homocysteine (P=0.03) concentrations. Median RBC folate concentration was much higher forTYMS3'UTR del/del subjects (434 µg/l) compared with either ins/ins (282 µg/l) or ins/del (298 µg/l) subjects. The median homocysteine concentration for del/del homozygotes was considerably lower compared with either ins/ins homozygotes or ins/del heterozygotes. A possible additive effect for the impact of theTYMS3'UTR del/del andMTHFR677CC genotypes on RBC folate concentration was also observed. Our findings suggest that theTYMS3'UTR del/del genotype is a significant determinant of elevated RBC folate concentration in a non-smoking population of northwestern European adults and that this genotype confers protection against diseases for which a low folate/high homocysteine phenotype appears to be an etiologic component.
- Subjects
GENES; GENETIC polymorphisms; ERYTHROCYTES; FOLIC acid; HOMOCYSTEINE; GENETICS
- Publication
Human Genetics, 2005, Vol 116, Issue 5, p347
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s00439-004-1243-2