The C677T mutation in the methylene tetrahydrofolate reductase gene increases serum uric acid in elderly men

Abstract

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.

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Received: February 28, 2000 / Accepted: February 29, 2000

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Zuo, M., Nishio, H., Lee, M. et al. The C677T mutation in the methylene tetrahydrofolate reductase gene increases serum uric acid in elderly men. J Hum Genet 45, 257–262 (2000). https://doi.org/10.1007/s100380070037

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  • Key words MTHFR
  • Homocysteine
  • Uric acid

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