Abstract |
There are several studies that have found a positive association between neural tube defects (NTDs) and the common mutation 677C > T of 5,10-methylenetetrahydrofolate reductase (MTHFR), and others that have not found such an association. We updated the meta-analyses of the published data about NTDs and MTHFR 677C > T variant from January 1994 to October 2005 identifying 170 potentially relevant studies. After applying pertinent exclusion criteria, 37 different populations from 32 studies were included in the meta-analysis, with a total of 3,530 cases and 6,296 controls. Further we stratified the data according to geographical region and ethnicity, and produced two separated meta-analyses for non-Latin European and Latin European descent populations. The general (odds ratio 1.41; 95% confidence interval 1.24-1.59), and the non-Latin European meta-analyses (1.62; 1.38-1.90) indicate an association of TT genotype and NTDs; no association was demonstrated for Latin European populations (1.16; 0.95-1.43). The examination of non-Latin European studies revealed that the association of TT genotype with NTD has only been proven for Irish populations, both by case-control studies, and by family-based tests, such as the allele transmission disequilibrium test (TDT).
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Authors | Márcia R Amorim, Marcelo A C Lima, Eduardo E Castilla, Iêda M Orioli |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 143A
Issue 15
Pg. 1726-32
(Aug 01 2007)
ISSN: 1552-4833 [Electronic] United States |
PMID | 17618486
(Publication Type: Journal Article, Meta-Analysis, Research Support, Non-U.S. Gov't)
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Copyright | (c) 2007 Wiley-Liss, Inc. |
Chemical References |
- Methylenetetrahydrofolate Reductase (NADPH2)
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Topics |
- Europe
(ethnology)
- Genetic Variation
- Humans
- Methylenetetrahydrofolate Reductase (NADPH2)
(genetics)
- Neural Tube Defects
(genetics)
- Polymorphism, Single Nucleotide
- Racial Groups
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