M. Zuo et al., The C677T mutation in the methylene tetrahydrofolate reductase gene increases serum uric acid in elderly men, J HUM GENET, 45(4), 2000, pp. 257-262
A common mutation, C677T, in the methylene tetrahydrofolate reductase gene
(MTHFR) reduces the activity of MTHFR and increases total homocysteine leve
ls in plasma. Increased homocysteine levels are reportedly associated with
high serum uric acid levels. The relationship between the MTHFR mutation an
d uric acid metabolism remains unclear, however. To investigate whether the
C677T MTHFR mutation is a risk factor for hyperuricemia, we performed MTHF
R genotyping and clinical laboratory determinations, including serum uric a
cid, in 271 elderly Japanese men (age range, 40-79 years; mean, 52.6 years)
. The mean uric acid levels for the CIC, CIT, and TIT genotypes were 5.67,
6.00, and 6.39 mg/dl, respectively (P = 0.012). The TIT genotype was more f
requent 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 mutati
on contributed to higher uric acid levels in subjects enrolled in this stud
y. In conclusion, the mutation of the MTHFR gene may be a risk factor for h
yperuricemia in elderly men.