| Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate. | |
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MedLine Citation:
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PMID: 18661527 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Cleft lip with or without cleft palate (CLP) and cleft palate only (CPO) have an inherited component and, many studies suggest, a relationship with folate. Attempts to find folate-related genes associated with clefts have, however, often been inconclusive. This study examined four SNPs related to folate metabolism (MTHFR 677 C-->T, MTHFR 1298 A-->C, MTHFD1 1958 G-->A, and TC II 776 C-->G) in a large Irish population to clarify their relationship with clefts. METHODS: Cases and their parents were recruited from major surgical centers performing cleft repairs in Ireland and a support organization. Data on risk factors, medical history, and DNA were collected. Controls were pregnant women from the greater Dublin area (n = 1,599). RESULTS: CLP cases numbered 536 and CPO cases 426 after exclusions. CPO mothers were significantly more likely than controls to be MTHFR 677 TT, OR 1.50 (95% CI: 1.05-2.16; p = .03). Log-linear analysis showed a borderline association (p = .07). Isolated CPO case mothers were significantly more likely than controls to be homozygous for the MTHFD1 1958 G-->A variant, OR 1.50 (95%CI: 1.08-2.09; p = .02). When multiple cases were added, both CPO cases and case mothers were significantly more likely to be AA (p = .02 and p = .007, respectively). The CLP case-control and mother-control analyses also showed significant effects, ORs 1.38 (95% CI: 1.05-1.82; p = .03) and 1.39 (95% CI: 1.04-1.85; p = .03), respectively. CONCLUSIONS: Associations were found for both CPO and CLP and MTHFD1 1958 G-->A in cases and case mothers. MTHFR 677 C-->T could be a maternal risk factor for clefts but the association was not strong. Because multiple comparisons were made, these findings require additional investigation. Given the known association between MTHFD1 1958 G-->A and NTDs, these findings should be explored in more detail. |
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Authors:
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James L Mills; Anne M Molloy; Anne Parle-McDermott; James F Troendle; Lawrence C Brody; Mary R Conley; Christopher Cox; Faith Pangilinan; David J A Orr; Michael Earley; Eamon McKiernan; Ena C Lynn; Anne Doyle; John M Scott; Peadar N Kirke |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, N.I.H., Intramural |
Journal Detail:
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Title: Birth defects research. Part A, Clinical and molecular teratology Volume: 82 ISSN: 1542-0760 ISO Abbreviation: Birth Defects Res. Part A Clin. Mol. Teratol. Publication Date: 2008 Sep |
Date Detail:
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Created Date: 2008-09-29 Completed Date: 2008-11-24 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 101155107 Medline TA: Birth Defects Res A Clin Mol Teratol Country: United States |
Other Details:
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Languages: eng Pagination: 636-43 Citation Subset: IM |
Copyright Information:
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(c) 2008 Wiley-Liss, Inc. |
Affiliation:
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Division of Epidemiology, Statistics and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. jamesmills@nih.gov |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Substitution
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genetics Case-Control Studies Child Cleft Lip / enzymology, genetics*, metabolism Cleft Palate / enzymology, genetics*, metabolism Female Folic Acid / genetics, metabolism* Genetic Predisposition to Disease* Humans Male Methylenetetrahydrofolate Reductase (NADPH2) / genetics Multicenter Studies as Topic Polymorphism, Single Nucleotide* Pregnancy Risk Factors |
| Grant Support | |
ID/Acronym/Agency:
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Z01 HD002502-15/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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59-30-3/Folic Acid; EC 1.5.1.20/Methylenetetrahydrofolate Reductase (NADPH2) |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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