| Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genes. | |
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MedLine Citation:
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PMID: 19764075 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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INTRODUCTION: Clark (1996) proposed that abnormal blood flow is related to some congenital cardiovascular malformations (CCVMs), particularly CCVM with obstruction to blood flow. Our hypothesis is that CCVMs may relate to genes that affect blood coagulation or flow. We studied whether polymorphisms of such genes are related to CCVMs; previous association of these SNPs to conotruncal CCVMs is described. METHODS: We assessed risk of pulmonary stenosis (PS, N = 120), atrial septal defect (ASD, N = 108), aortic stenosis (AS, N = 36), and coarctation of the aorta (CoAo, N = 64), associated with 33 candidate genes, selected for their relationship to blood flow affected by homocysteine metabolism, coagulation, cell-cell interaction, inflammation, or blood pressure regulation. RESULTS: Effects were specific to cardiac phenotype and race. CoAo was associated with MTHFR (-667) C>T (odds ratio [OR] for TT 3.5, 95% confidence limits [CI] 1.4-8.6). AS was associated with a polymorphism of SERPINE1, G5>G4, OR = 5.6 for the homozygote with 95% CI 1.4-22.9. Unique polymorphisms were associated with increased risk of ASD and PS: NPPA 664G>A with ASD (OR of 2.4, 95%CI 1.3-4.4) and NOS3 (-690) C>T with PS (OR 6.1; 95% CI 1.6-22.6 in the African American population only). For ASD, the NPPA (-664) G>A SNP there was increased risk from the variant genotype only in maternal smokers (OR 2.6; 95% CI 1.0-7.2). CONCLUSIONS: Genes affecting vascular function and coagulation appear to be promising candidates for the etiology of cardiac malformations and warrant further study. |
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Authors:
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Karen Kuehl; Christopher Loffredo; Edward J Lammer; David M Iovannisci; Gary M Shaw |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
Journal Detail:
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Title: Birth defects research. Part A, Clinical and molecular teratology Volume: 88 ISSN: 1542-0760 ISO Abbreviation: Birth Defects Res. Part A Clin. Mol. Teratol. Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-02-17 Completed Date: 2010-05-07 Revised Date: 2011-06-14 |
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: 101-10 Citation Subset: IM |
Affiliation:
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Children's National Heart Institute, Washington, DC 20010, USA. kkuehl@cnmc.org |
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| MeSH Terms | |
Descriptor/Qualifier:
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Aortic Coarctation
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genetics Aortic Valve Stenosis / genetics Blood Coagulation / genetics Blood Pressure / genetics, physiology Cell Communication / genetics Continental Population Groups / genetics Dietary Supplements Female Heart Defects, Congenital / genetics* Heart Septal Defects, Atrial / genetics Homocysteine / genetics, metabolism Humans Infant, Newborn Male Methylenetetrahydrofolate Reductase (NADPH2) / genetics Polymorphism, Single Nucleotide* Pregnancy Prospective Studies Pulmonary Valve Stenosis / genetics |
| Grant Support | |
ID/Acronym/Agency:
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R01 HL077708/HL/NHLBI NIH HHS; R01 HL077708-04/HL/NHLBI NIH HHS; R01 HL085859/HL/NHLBI NIH HHS; R01 HL085859-04/HL/NHLBI NIH HHS |
| Chemical | |
Reg. No./Substance:
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454-28-4/Homocysteine; 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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