| Risk of congenital heart defects is influenced by genetic variation in folate metabolism. | |
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MedLine Citation:
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PMID: 22475273 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Genetic disturbances in folate metabolism may increase risk for congenital heart defects. We examined the association of heart defects with four polymorphisms in folate-related genes (methylenetetrahydrofolate reductase (MTHFR) c.677C > T, MTHFR c.1298A > C, methionine synthase reductase (MTRR) c.66A > G, and reduced folate carrier (SLC19A1) c.80A > G) in a case-control study of children (156 patients, 69 controls) and mothers of children with heart defects (181 patients, 65 controls), born before folic acid fortification. MTRR c.66A > G in children modified odds ratios for overall heart defects, specifically ventricular septal defect and aortic valve stenosis (p-value below 0.05). The 66GG and AG genotypes were associated with decreased odds ratios for heart defects (0.42, 95% confidence interval (0.18-0.97) and 0.39 (0.18-0.84), respectively). This overall association was driven by decreased risk for ventricular septal defect for 66GG and AG (odds ratio 0.32 (0.11-0.91) and 0.25 (0.09-0.65)) and decreased odds ratio for aortic valve stenosis for 66AG (0.27 (0.09-0.79)). The association of ventricular septal defect and 66AG remained significant after correction for multiple testing (p = 0.0044, multiple testing threshold p = 0.0125). Maternal MTHFR 1298AC genotype was associated with increased odds ratio for aortic valve stenosis (2.90 (1.22-6.86), p = 0.0157), but this association did not meet the higher multiple testing threshold. No association between MTHFR c.677C > T or SLC19A1 c.80A > G and heart defect risk was found. The influence of folate-related polymorphisms may be specific to certain types of heart defects; larger cohorts of mothers and children with distinct sub-classes are required to adequately address risk. |
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Authors:
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Karen E Christensen; Yassamin Feroz Zada; Charles V Rohlicek; Gregor U Andelfinger; Jacques L Michaud; Jean-Luc Bigras; Andrea Richter; Marie-Pierre Dubé; Rima Rozen |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-4-5 |
Journal Detail:
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Title: Cardiology in the young Volume: - ISSN: 1467-1107 ISO Abbreviation: - Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-4-5 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9200019 Medline TA: Cardiol Young Country: - |
Other Details:
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Languages: ENG Pagination: 1-10 Citation Subset: - |
Affiliation:
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1Departments of Pediatrics and Human Genetics, McGill University-Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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