NDLI: The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects

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The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects

Content Provider	Springer Nature Link
Author	Brown, Karen S. Kluijtmans, Leo A. J. Young, Ian S. McNulty, Helene Mitchell, Laura E. Yarnell, John W. G. Woodside, Jayne V. Boreham, Colin A. McMaster, Dorothy Murray, Liam Strain, J. J. Whitehead, Alexander S.
Copyright Year	2003
Abstract	Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene has a tandem repeat polymorphism (two repeats or three repeats, designated 2R or 3R, respectively), which may also affect homocysteine concentrations. The 3R allele is subject to increased translational efficiency in vitro and the 3R3R genotype is associated with both decreased serum folate and elevated plasma homocysteine (tHcy) in a population of Singapore Chinese. We assessed the relationship between TYMS genotype and key biochemical and genetic variables in a random sample of 392 healthy young Northwestern European men and women. The tHcy concentrations for 3R3R homozygotes (median 8.5 μmol/l) did not differ significantly from those for 2R2R homozygotes (median 8.7 μmol/l) or 2R3R heterozygotes (median 9.3 μmol/l) in the population as a whole (P=0.43), or in subsets of subjects with low serum folate (P=0.60) or the MTHFR 677TT genotype (P=0.90). Furthermore, there was no trend toward elevated tHcy in 3R3R homozygotes. Similarly, the TYMS tandem repeat polymorphism was not associated with serum folate concentrations. Our findings indicate that the TYMS 3R3R genotype is not a determinant of homocysteine in this sample of healthy young Caucasian adults from Northern Ireland.
Starting Page	182
Ending Page	185
Page Count	4
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	114
Issue Number	2
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2003-10-25
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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