{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:19:58Z","timestamp":1775305198020,"version":"3.50.1"},"reference-count":62,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,9,17]],"date-time":"2009-09-17T00:00:00Z","timestamp":1253145600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>INTRODUCTION:<\/jats:bold> Clark (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib6\">1996<\/jats:ext-link>) 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. <jats:bold>METHODS:<\/jats:bold> 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\u2010cell interaction, inflammation, or blood pressure regulation. <jats:bold>RESULTS:<\/jats:bold> Effects were specific to cardiac phenotype and race. CoAo was associated with <jats:italic>MTHFR<\/jats:italic> (\u2212667) C&gt;T (odds ratio [OR] for TT 3.5, 95% confidence limits [CI] 1.4\u20138.6). AS was associated with a polymorphism of <jats:italic>SERPINE1<\/jats:italic>, G5&gt;G4, OR = 5.6 for the homozygote with 95% CI 1.4\u201322.9. Unique polymorphisms were associated with increased risk of ASD and PS: <jats:italic>NPPA<\/jats:italic> 664G&gt;A with ASD (OR of 2.4, 95%CI 1.3\u20134.4) and <jats:italic>NOS3<\/jats:italic> (\u2212690) C&gt;T with PS (OR 6.1; 95% CI 1.6\u201322.6 in the African American population only). For ASD, the <jats:italic>NPPA<\/jats:italic> (\u2212664) G&gt;A SNP there was increased risk from the variant genotype only in maternal smokers (OR 2.6; 95% CI 1.0\u20137.2). <jats:bold>CONCLUSIONS:<\/jats:bold> Genes affecting vascular function and coagulation appear to be promising candidates for the etiology of cardiac malformations and warrant further study. Birth Defects Research (Part A), 2010. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/bdra.20630","type":"journal-article","created":{"date-parts":[[2009,9,17]],"date-time":"2009-09-17T20:09:58Z","timestamp":1253218198000},"page":"101-110","source":"Crossref","is-referenced-by-count":21,"title":["Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease\u2013related genes"],"prefix":"10.1002","volume":"88","author":[{"given":"Karen","family":"Kuehl","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Loffredo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward J.","family":"Lammer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David 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