Document Detail

The C677T mutation in the methylene tetrahydrofolate reductase gene increases serum uric acid in elderly men.
MedLine Citation:
PMID:  10944859     Owner:  NLM     Status:  MEDLINE    
A common mutation, C677T, in the methylene tetrahydrofolate reductase gene (MTHFR) reduces the activity of MTHFR and increases total homocysteine levels in plasma. Increased homocysteine levels are reportedly associated with high serum uric acid levels. The relationship between the MTHFR mutation and uric acid metabolism remains unclear, however. To investigate whether the C677T MTHFR mutation is a risk factor for hyperuricemia, we performed MTHFR genotyping and clinical laboratory determinations, including serum uric acid, in 271 elderly Japanese men (age range, 40-79 years; mean, 52.6 years). The mean uric acid levels for the C/C, C/T, and T/T genotypes were 5.67, 6.00, and 6.39 mg/dl, respectively (P = 0.012). The T/T genotype was more frequent in subjects with high uric acid levels than in those with low uric acid levels (P = 0.038). These findings suggest that the C677T MTHFR mutation contributed to higher uric acid levels in subjects enrolled in this study. In conclusion, the mutation of the MTHFR gene may be a risk factor for hyperuricemia in elderly men.
M Zuo; H Nishio; M J Lee; K Maejima; S Mimura; K Sumino
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of human genetics     Volume:  45     ISSN:  1434-5161     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2000  
Date Detail:
Created Date:  2000-09-01     Completed Date:  2000-09-01     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  257-62     Citation Subset:  IM    
Department of Public Health, Kobe University School of Medicine, Japan.
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MeSH Terms
DNA / blood
Homocysteine / blood*
Methylenetetrahydrofolate Reductase (NADPH2)
Middle Aged
Oxidoreductases Acting on CH-NH Group Donors / genetics*,  metabolism
Point Mutation
Polymerase Chain Reaction
Regression Analysis
Risk Factors
Uric Acid / blood*
Reg. No./Substance:
454-28-4/Homocysteine; 69-93-2/Uric Acid; 9007-49-2/DNA; EC 1.5.-/Oxidoreductases Acting on CH-NH Group Donors; EC Reductase (NADPH2)

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