| pubmed-article:9545395 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9545395 | lifeskim:mentions | umls-concept:C0035648 | lld:lifeskim |
| pubmed-article:9545395 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:9545395 | lifeskim:mentions | umls-concept:C0919427 | lld:lifeskim |
| pubmed-article:9545395 | lifeskim:mentions | umls-concept:C1524062 | lld:lifeskim |
| pubmed-article:9545395 | lifeskim:mentions | umls-concept:C0243067 | lld:lifeskim |
| pubmed-article:9545395 | lifeskim:mentions | umls-concept:C0205214 | lld:lifeskim |
| pubmed-article:9545395 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:9545395 | pubmed:dateCreated | 1998-5-21 | lld:pubmed |
| pubmed-article:9545395 | pubmed:abstractText | Recently, we showed that homozygosity for the common 677(C-->T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the enzyme, is a risk factor for neural-tube defects (NTDs). We now report on another mutation in the same gene, the 1298(A-->C) mutation, which changes a glutamate into an alanine residue. This mutation destroys an MboII recognition site and has an allele frequency of .33. This 1298(A-->C) mutation results in decreased MTHFR activity (one-way analysis of variance [ANOVA] P < .0001), which is more pronounced in the homozygous than heterozygous state. Neither the homozygous nor the heterozygous state is associated with higher plasma homocysteine (Hcy) or a lower plasma folate concentration-phenomena that are evident with homozygosity for the 677(C-->T) mutation. However, there appears to be an interaction between these two common mutations. When compared with heterozygosity for either the 677(C-->T) or 1298(A-->C) mutations, the combined heterozygosity for the 1298(A-->C) and 677(C-->T) mutations was associated with reduced MTHFR specific activity (ANOVA P < .0001), higher Hcy, and decreased plasma folate levels (ANOVA P <.03). Thus, combined heterozygosity for both MTHFR mutations results in similar features as observed in homozygotes for the 677(C-->T) mutation. This combined heterozygosity was observed in 28% (n =86) of the NTD patients compared with 20% (n =403) among controls, resulting in an odds ratio of 2.04 (95% confidence interval: .9-4.7). These data suggest that the combined heterozygosity for the two MTHFR common mutations accounts for a proportion of folate-related NTDs, which is not explained by homozygosity for the 677(C-->T) mutation, and can be an additional genetic risk factor for NTDs. | lld:pubmed |
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| pubmed-article:9545395 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:9545395 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:9545395 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9545395 | pubmed:month | May | lld:pubmed |
| pubmed-article:9545395 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:9545395 | pubmed:author | pubmed-author:EskesT KTK | lld:pubmed |
| pubmed-article:9545395 | pubmed:author | pubmed-author:StevensE MEM | lld:pubmed |
| pubmed-article:9545395 | pubmed:author | pubmed-author:TrijbelsF JFJ | lld:pubmed |
| pubmed-article:9545395 | pubmed:author | pubmed-author:BlomH JHJ | lld:pubmed |
| pubmed-article:9545395 | pubmed:author | pubmed-author:SmeitinkJ AJA | lld:pubmed |
| pubmed-article:9545395 | pubmed:author | pubmed-author:van den... | lld:pubmed |
| pubmed-article:9545395 | pubmed:author | pubmed-author:GabreëlsFF | lld:pubmed |
| pubmed-article:9545395 | pubmed:author | pubmed-author:van der... | lld:pubmed |
| pubmed-article:9545395 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9545395 | pubmed:volume | 62 | lld:pubmed |
| pubmed-article:9545395 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9545395 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9545395 | pubmed:pagination | 1044-51 | lld:pubmed |
| pubmed-article:9545395 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:9545395 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9545395 | pubmed:articleTitle | A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? | lld:pubmed |
| pubmed-article:9545395 | pubmed:affiliation | Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands. | lld:pubmed |
| pubmed-article:9545395 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9545395 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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