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dc.contributor.authorMCPARTLIN, JOSEPH
dc.contributor.authorSCOTT, JOHN MARTIN
dc.date.accessioned2009-11-13T15:16:25Z
dc.date.available2009-11-13T15:16:25Z
dc.date.issued2005
dc.date.submitted2005en
dc.identifier.citationKealey C, Brown KS, Woodside JV, Young I, Murray L, Boreham CA, McNulty H, Strain JJ, McPartlin J, Scott JM, Whitehead AS. `A common insertion/deletion polymorphism of the thymidylate synthase (TYMS) gene is a determinant of red blood cell folate and homocysteine concentrations? in Human Genetics, 116, (5), 2005, pp 347-353en
dc.identifier.otherY
dc.identifier.other62192
dc.identifier.otherYen
dc.identifier.urihttp://hdl.handle.net/2262/34717
dc.descriptionPUBLISHEDen
dc.description.abstractSubstantial evidence suggests that a low folate/high homocysteine phenotype is pathogenic. We analyzed the impact of the thymidylate synthase (TYMS) 3UTR ins/del polymorphism on folate and homocysteine levels and assessed the relationship between the TYMS 3UTR ins/del polymorphism and key genetic and lifestyle variables. Among non-smokers only, the TYMS 3UTR 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 for TYMS 3UTR del/del subjects (434 g/l) compared with either ins/ins (282 g/l) or ins/del (298 g/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 the TYMS 3UTR del/del and MTHFR 677CC genotypes on RBC folate concentration was also observed. Our findings suggest that the TYMS 3UTR 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.en
dc.description.sponsorshipThis work was supported by NIH grant AR47663 and in part by NIH grants HD39195 and HD39081. Support for the Young Hearts Project was provided by the British Heart Foundation and the Wellcome Trust.en
dc.format.extent347-353en
dc.format.extent234164 bytes
dc.format.mimetypeapplication/pdf
dc.language.isoenen
dc.publisherSpringeren
dc.relation.ispartofseriesHuman Geneticsen
dc.relation.ispartofseries116en
dc.relation.ispartofseries5en
dc.rightsYen
dc.subjectClinical Medicineen
dc.titleA common insertion/deletion polymorphism of the thymidylate synthase (TYMS) gene is a determinant of red blood cell folate and homocysteine concentrationsen
dc.typeJournal Articleen
dc.contributor.sponsorWellcome Trust
dc.type.supercollectionscholarly_publicationsen
dc.type.supercollectionrefereed_publicationsen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/jmcprtln
dc.identifier.rssurihttp://dx.doi.org/10.1007/s00439-004-1243-2


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