A common insertion /deletion polymorphism of the thymidylate synthase (TYMS ) gene is a determinant of red blood cell folate and homocysteine concentrations

作者: Carmel Kealey , Karen S. Brown , Jayne V. Woodside , Ian Young , Liam Murray

DOI: 10.1007/S00439-004-1243-2

关键词:

摘要: Substantial evidence suggests that a low folate/high homocysteine phenotype is pathogenic. We analyzed the impact of thymidylate synthase (TYMS) 3′UTR ins/del polymorphism on folate and levels assessed relationship between TYMS key genetic lifestyle variables. Among non-smokers only, was significantly associated with red blood cell (RBC folate; P=0.002) (P=0.03) concentrations. Median RBC concentration much higher for del/del subjects (434 μg/l) compared either ins/ins (282 or (298 subjects. The median homozygotes considerably lower heterozygotes. A possible additive effect MTHFR 677CC genotypes also observed. Our findings suggest genotype significant determinant elevated in non-smoking population northwestern European adults this confers protection against diseases which appears to be an etiologic component.

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