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Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population by Andreia Bufalino; Lívia Máris Ribeiro Paranaíba; Sibele Nascimento de Aquino; Hercílio Martelli-Júnior; Mario Sergio Oliveira Swerts; Ricardo D. Coletta is a Medicine article available to read on EtoBox.
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BACKGROUND: Polymorphisms in genes that are involved in folic acid metabolism may be important maternal risk factors for the birth of a child with nonsyndromic cleft lip and/or palate (NSCL/P). The aim of this study was to determine the involvement of polymorphic variants in four genes (MTHFR, MTHFD1, MTR, and SLC19A1) that encode proteins related to folic acid metabolism in the women with susceptibility for having a child with NSCL/P. METHODS: DNA samples from 106 mothers of children with NSCL/P (case group) and from 184 mothers of healthy children (control group) were genotyped by polymerase chain reaction associated with restriction fragment length polymorphism (PCR-RFLP). RESULTS: One of 29 polymorphisms was associated with significantly increased maternal risk for NSCL/P. Mothers exhibiting the A variant allele (GA genotype) of the MTHFR rs2274976 polymorphism demonstrated a $6 times increased risk for having a child with NSCL/P compared to G allele carriers (OR, 5.76; 95% CI, 3.32-9.99, p 5 0.000001). Among mothers who did not use vitamins, the OR of NSCL/P was increased to 8.34 (95% CI, 3.75-18.55, p 5 0.000001) in the presence of the GA genotype of the MTHFR rs2274976 polym
Who reads Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population?
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- Author
- Andreia Bufalino; Lívia Máris Ribeiro Paranaíba; Sibele Nascimento de Aquino; Hercílio Martelli-Júnior; Mario Sergio Oliveira Swerts; Ricardo D. Coletta
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 1542-0752)
- Published
- 2010
- Language
- EN
- Field
- Medicine (Health Sciences)