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Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia.
Open accessAbstract
A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a C to T substitution at nucleotide 677, is responsible for reduced MTHFR activity and associated with modestly increased plasma homocysteine concentrations. Since underlying maternal vascular disease increases the risk of pre-eclampsia, we had the working hypothesis that pre-eclampsia patients would have an increased T677 allele frequency compared with controls. The MTHFR genotypes were determined in 67 pre-eclampsia patients, 98 normal pregnant women, and 260 healthy adults by the PCR/RFLP method. The T677 allele and the genotype homozygous for the T677 allele were significantly increased in the pre-eclamptic group compared with the controls (p < 0.02 and p < 0.004, respectively). The data indicate that the T677 variant of the MTHFR gene is one of the genetic risk factors for pre-eclampsia.
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Cited by
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Metadata
- Authors
- Sohda, S., Arinami, T., Hamada, H., Yamada, N., Hamaguchi, H., & Kubo, T.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1997-06
- Volume
- 34
- Issue
- 6
- Pages
- 525-526
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2013526328
- Cited by
- 212
- References
- 0
- FWCI
- 16.63
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Sohda, S., Arinami, T., Hamada, H., Yamada, N., Hamaguchi, H., & Kubo, T. (1997). Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia. Journal of Medical Genetics. https://doi.org/10.1136/jmg.34.6.525
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