{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T23:11:26Z","timestamp":1782601886458,"version":"3.54.5"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2002,10,23]],"date-time":"2002-10-23T00:00:00Z","timestamp":1035331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Teratology"],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Altered cholesterol metabolism and defects in cholesterol biosynthesis may influence abnormal central nervous system (CNS) development. During early stages of embryonic development, high levels of cholesterol are needed by rapidly proliferating cells that utilize cholesterol as a key cell membrane component. Alterations in cholesterol levels are influenced by variations in the apolipoprotein E (apoE) and apolipoprotein B (apoB) genes. The purpose of our study was to explore the possible association between infant genetic variations in the apoE and apoB genes and spina bifida (SB) risk.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genomic DNA was extracted from newborn screening blood spots obtained from 26 infants with SB and 73 non\u2010malformed control infants. ApoE and apoB genotypes were determined by restriction enzyme digestion of PCR amplification products.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Genotype frequencies for the apoE and apoB polymorphisms were not statistically different between case and control infants. For each apoB polymorphism, however, the frequency of the wild\u2010type allele was higher in SB infants as compared to controls. Additionally, the apoE genotype E2\/E3 was observed more frequently in the controls than in SB infants [15% in controls compared to 4% in cases; OR = 0.2 (0\u20131.6)].<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Results from this study suggest that genetic variations in the apoE and apoB genes, known to regulate cholesterol metabolism, do not substantially contribute to the risk of SB in infants. Teratology 66:257\u2013259, 2002. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/tera.10097","type":"journal-article","created":{"date-parts":[[2002,10,24]],"date-time":"2002-10-24T13:04:06Z","timestamp":1035464646000},"page":"257-259","source":"Crossref","is-referenced-by-count":11,"title":["Apolipoprotein E and apolipoprotein B genotypes and risk for spina bifida"],"prefix":"10.1002","volume":"66","author":[{"given":"Kelly A.","family":"Volcik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiping","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary M.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward J.","family":"Lammer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard H.","family":"Finnell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,10,23]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"104","article-title":"Simultaneous effects of the apolipoprotein E polymorphism on apolipoprotein E, apolipoprotein B, and cholesterol metabolism","volume":"42","author":"Boerwinkle E","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-3016.1991.tb00728.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10134"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.8.1.1"},{"key":"e_1_2_1_6_1","first-page":"215","article-title":"DNA polymorphisms of the apolipoprotein B gene (XbaI, EcoRI, and MspI RFLPs) in Norwegians at risk of atherosclerosis and healthy controls","volume":"54","author":"Delghandi M","year":"1999","journal-title":"Acta Cardiol"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00041433-199604000-00002"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2796.1992.tb01253.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.5.1774"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"1812","DOI":"10.1016\/S0022-2275(20)31975-1","article-title":"Context\u2010dependent and invariant associations between lipids, lipoproteins, and apolipoproteins and apolipoprotein E genotype","volume":"41","author":"Frikke\u2010Schmidt R","year":"2000","journal-title":"J Lipid Res"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/303070"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-123"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.6.2389"},{"key":"e_1_2_1_14_1","first-page":"1","article-title":"Exencephaly and hydrocephaly in mice with targeted modification of the apolipoprotein B (Apob)","volume":"51","author":"Homanics GE","year":"1995","journal-title":"gene"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118269"},{"key":"e_1_2_1_16_1","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1016\/S0021-9258(17)43536-8","article-title":"Defective hepatic lipoprotein receptor binding of beta\u2010very low\u2010density lipoproteins from type III hyperlipoproteinemic patients. 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