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Cited by 1,044

The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.

5, 10-Methylenetetrahydrofolate Reductase Gene Variants and Congenital Anomalies: A HuGE Review

Botto, L. D., Yang, Q.·2000·American Journal of Epidemiology
DOI 10.1093/oxfordjournals.aje.a010290
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Abstract

The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism. The MTHFR gene is located on chromosome 1 (1p36.3), and two common alleles, the C677T (thermolabile) allele and the A1298C allele, have been described. The population frequency of C677T homozygosity ranges from 1% or less among Blacks from Africa and the United States to 20% or more among Italians and US Hispanics. C677T homozygosity in infants is associated with a moderately increased risk for spina bifida (pooled odds ratio = 1.8; 95% confidence interval: 1.4, 2.2). Maternal C677T homozygosity also appears to be a moderate risk factor (pooled odds ratio = 2.0; 95% confidence interval: 1.5, 2.8). The A 1298C allele combined with the C677T allele also could be associated with an increased risk for spina bifida. Some data suggest that the risk for spina bifida associated with C677T homozygosity may depend on nutritional status (e.g., blood folate levels, intake of vitamins) or on the genotype of other folate-related genes (e.g., cystathionine-beta-synthase and methionine synthase reductase). Studies of the C677T allele in relation to oral clefts, Down syndrome, and fetal anticonvulsant syndrome either have yielded conflicting results or have not been yet replicated.

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Metadata

Authors
Botto, L. D., & Yang, Q.
Venue
American Journal of Epidemiology
Publisher
Oxford University Press (OUP)
Published
2000-05-01
Volume
151
Issue
9
Pages
862-877
ISSN
  • 0002-9262 (ISSN-L)
  • 1476-6256
DOI
10.1093/oxfordjournals.aje.a010290
OpenAlex
W2130826341
Cited by
1,044
References
1
FWCI
33.31
Type
journal article
Language
en
Open access
closed

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