{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T09:45:03Z","timestamp":1751535903923,"version":"3.37.0"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,9,23]],"date-time":"2009-09-23T00:00:00Z","timestamp":1253664000000},"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":[[2010,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND:<\/jats:title><jats:p>Congenital heart defects (CHDs) are the most common, serious group of birth defects. Although relatively little is known about the causes of these conditions and there are no established prevention strategies, evidence suggests that the risk of CHDs may be related to maternal folate status as well as genetic variants in folate\u2010related genes. Efforts to establish the relationships between these factors and CHD risk have, however, been hampered by a number of factors, including small study sample sizes and phenotypic heterogeneity.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS:<\/jats:title><jats:p>The present study examined the relationship between nine genetic variants in eight folate\u2010related genes and a relatively homogeneous group of left\u2010sided cardiac defects in a cohort of 386 case\u2010parent triads. Log\u2010linear analyses were used to assess both maternal and inherited genetic effects.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS:<\/jats:title><jats:p>Analyses of the study data provided marginal evidence that the maternal<jats:italic>MTR<\/jats:italic>A2756G (unadjusted<jats:italic>p<\/jats:italic>= 0.01) and the inherited<jats:italic>BHMT<\/jats:italic>G742A (unadjusted<jats:italic>p<\/jats:italic>= 0.06) genotypes influence the risk of this subset of CHDs. However, neither association achieved significance when the false\u2010discovery rate was controlled at 0.05.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS:<\/jats:title><jats:p>These results, which are based on the largest study sample and most comprehensive assessment of the relationship between left\u2010sided cardiac defects and folate\u2010related genes reported to date, provide little evidence that this subset of CHDs is folate related. However, even larger studies and more comprehensive evaluations of the folate pathway genes are required to fully explore the relationship between folate and left\u2010sided cardiac defects. Birth Defects Research (Part A) 2010. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.20622","type":"journal-article","created":{"date-parts":[[2009,9,23]],"date-time":"2009-09-23T20:39:51Z","timestamp":1253738391000},"page":"48-53","source":"Crossref","is-referenced-by-count":12,"title":["Variants of folate metabolism genes and risk of left\u2010sided cardiac defects"],"prefix":"10.1002","volume":"88","author":[{"given":"Laura E.","family":"Mitchell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Long","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Garbarini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prasuna","family":"Paluru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Goldmuntz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,9,23]]},"reference":[{"issue":"1","key":"e_1_2_5_2_1","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the false discovery rate: a practical and powerful approach to multiple testing","volume":"57","author":"Benjamini Y","year":"1995","journal-title":"J R Stat Soc Ser B (Methodological)"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.103.19.2376"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20403"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a010291"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20132"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1289\/ehp.9166"},{"key":"e_1_2_5_8_1","unstructured":"ChristiansonA HowsonCP ModellB.2006. March of Dimes global report on birth defects. Available at:http:\/\/www.marchofdimes.com\/MOD\u2010Report\u2010PF.pdf"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(83)80170-2"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2004.03.050"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/344209"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0735-1097(89)90122-8"},{"key":"e_1_2_5_13_1","first-page":"166","volume-title":"Left\u2010sided obstructive lesions. Genetic and environmental risk factors of major cardiovascular malformations: the Baltimore\u2010Washington Infant Study: 1981\u20131989","author":"Ferencz C","year":"1997"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(75)90461-0"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8817.2005.00218.x"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.108.796342"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2007.07.021"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.032656"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.183216"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2003-0782-L"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20049"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30602"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwi249"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20115"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00618.x"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.annepidem.2005.02.014"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.183056"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30924"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwg189"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hcm094"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.2006.254"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.2008.271"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.12.002"},{"key":"e_1_2_5_34_1","article-title":"LEM: a general program for the analysis of categorical data","author":"Vermunt JK","year":"1997","journal-title":"Tilberg University."},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1086\/301802"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30739"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.20622","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.20622","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T09:36:43Z","timestamp":1739353003000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.20622"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9,23]]},"references-count":35,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["10.1002\/bdra.20622"],"URL":"https:\/\/doi.org\/10.1002\/bdra.20622","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"type":"print","value":"1542-0752"},{"type":"electronic","value":"1542-0760"}],"subject":[],"published":{"date-parts":[[2009,9,23]]}}}