{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T07:53:22Z","timestamp":1720598002316},"reference-count":33,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,7,15]],"date-time":"2015-07-15T00:00:00Z","timestamp":1436918400000},"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":[[2015,9]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Spina bifida is the most common form of neural tube defects (NTDs). Etiologies of NTDs are multifactorial, and oxidative stress is believed to play a key role in NTD development. Heme oxygenase (HO), the rate\u2010limiting enzyme in heme degradation, has multiple protective properties including mediating antioxidant processes, making it an ideal candidate for study. The inducible HO isoform (HO\u20101) has two functional genetic polymorphisms: (GT)<jats:sub>n<\/jats:sub> dinucleotide repeats and A(\u2010413)T SNP (rs2071746), both of which can affect its promoter activity. However, no study has investigated a possible association between <jats:italic>HO\u20101<\/jats:italic> genetic polymorphisms and risk of NTDs. Methods: This case\u2010control study included 152 spina bifida cases (all myelomeningoceles) and 148 nonmalformed controls obtained from the California Birth Defects Monitoring Program reflecting births during 1990 to 1999. Genetic polymorphisms were determined by polymerase chain reaction and amplified fragment length polymorphisms\/restriction fragment length polymorphisms using genomic DNA extracted from archived newborn blood spots. Genotype and haplotype frequencies of two <jats:italic>HO\u20101<\/jats:italic> promoter polymorphisms between cases and controls were compared. Results: For (GT)n dinucleotide repeat lengths and the A(\u2010413)T SNP, no significant differences in allele frequencies or genotypes were found. Linkage disequilibrium was observed between the <jats:italic>HO\u20101<\/jats:italic> polymorphisms (D\u2032: 0.833); however, haplotype analyses did not show increased risk of spina bifida overall or by race\/ethnicity. Conclusion: Although, an association was not found between <jats:italic>HO\u20101<\/jats:italic> polymorphisms and risk of spina bifida, we speculate that the combined effect of low HO\u20101 expression and exposures to known environmental oxidative stressors (low folate status or diabetes), may overwhelm antioxidant defenses and increase risk of NTDs and warrants further study. Birth Defects Research (Part A) 103:741\u2013746, 2015. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23343","type":"journal-article","created":{"date-parts":[[2015,7,15]],"date-time":"2015-07-15T07:40:55Z","timestamp":1436946055000},"page":"741-746","source":"Crossref","is-referenced-by-count":3,"title":["Heme oxygenase\u20101 promoter polymorphisms and risk of spina bifida"],"prefix":"10.1002","volume":"103","author":[{"given":"Kazumichi","family":"Fujioka","sequence":"first","affiliation":[{"name":"Department of Pediatrics Division of Neonatal and Developmental Medicine Stanford University School of Medicine Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Neonatal and Developmental Medicine Stanford University School of Medicine Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew B.","family":"Wallenstein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Neonatal and Developmental Medicine Stanford University School of Medicine Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Neonatal and Developmental Medicine Stanford University School of Medicine Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald J.","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Neonatal and Developmental Medicine Stanford University School of Medicine Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David K.","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Neonatal and Developmental Medicine Stanford University School of Medicine Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary M.","family":"Shaw","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Neonatal and Developmental Medicine Stanford University School of Medicine Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,7,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1089\/ars.2004.6.924"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.192.7.1015"},{"key":"e_1_2_6_5_1","unstructured":"Center for Disease Control. Data and statistics\/spina bifida\/NCBDDD\/CDC. Available at:http:\/\/wwwcdcgov\/ncbddd\/spinabifida\/datahtml. Updated August 5 2014. Assessed September 14 2014."},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-003-1063-2"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0769-4"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70110-8"},{"key":"e_1_2_6_9_1","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.ajog.2008.06.028","article-title":"Diabetes mellitus and birth defects","volume":"199","author":"Correa A","year":"2008","journal-title":"Am J Obstet Gynecol"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-3016.1991.tb00728.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199212243272602"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.freeradbiomed.2004.07.008"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(95)91323-8"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2014.06.368"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2013.06.004"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.bmb.a071187"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10753-014-9908-z"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.2.10.3290025"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2009.06.042"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20566"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.freeradbiomed.2014.03.042"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1530\/JME-11-0123"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.atherosclerosis.2003.11.021"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.3109\/01913123.2011.630125"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-49"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1996.03530380035028"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s001250050844"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(96)80001-9"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0064710"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3029864"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.61.2.748"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-2091-7"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1086\/302729"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.1997.272.1.E173"}],"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.23343","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.23343","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.23343","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T19:01:33Z","timestamp":1696618893000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.23343"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,15]]},"references-count":33,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["10.1002\/bdra.23343"],"URL":"https:\/\/doi.org\/10.1002\/bdra.23343","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,15]]}}}