Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans.
Neurosci Lett
; 344(3): 189-92, 2003 Jul 03.
Article
en En
| MEDLINE
| ID: mdl-12812837
The pathogenic mechanism of neural tube defects may involve genetic polymorphisms and nutritional factors related to homocysteine metabolism. We evaluated the association of polymorphisms of three genes affecting vitamin B12-dependent remethylation of homocysteine, transcobalamin (TC), methionine synthase (MTR) and MTR reductase (MTRR), combined or not with methylenetetrahydrofolate reductase (MTHFR), with the risk of having neural tube defect in 40 children with spina bifida and 58 matched controls from South Italy. MTR 2756 AG/GG, TC 777 CG/GG /MTHFR 677 CC and MTRR 66 GG /MTHFR 677 CC genotypes increased the risk with odds ratios of 2.6 (P=0.046), 2.4 (P=0.028) and 4.5 (P=0.023), respectively. In contrast, MTHFR 677 TT was protective (odds ratio=0.11, P=0.009). In conclusion, genetic determinants affecting the cellular availability or MTRR-dependent reduction of B12 may increase the risk of spina bifida.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
5-Metiltetrahidrofolato-Homocisteína S-Metiltransferasa
/
Transcobalaminas
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Defectos del Tubo Neural
Tipo de estudio:
Etiology_studies
/
Risk_factors_studies
Límite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Neurosci Lett
Año:
2003
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
Irlanda