{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:51:54Z","timestamp":1775307114728,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,9,13]],"date-time":"2012-09-13T00:00:00Z","timestamp":1347494400000},"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":[[2012,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>A common and severe neural tube defect (NTD) phenotype, myelomeningocele (MM), results from the defective closure of the caudal end of the neural tube with herniation of the spinal cord and meninges through the vertebral column. The exact mechanisms for NTDs are unknown, but excessive oxidative stress, particularly in association with maternal diabetes, has been postulated as a mechanism for MM.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The SNPlex Genotyping (ABI, Foster City, CA) platform was used to investigate single nucleotide polymorphisms (SNPs) across the superoxide dismutase (<jats:italic>SOD<\/jats:italic>) 1 and 2 genes to assess their association with MM risk. The study population included 329 trio (affected child and both parents) and 281 duo (affected child and one parent) families. Only cases with documented MM were studied. Seventeen SNPs across the <jats:italic>SOD1<\/jats:italic> and <jats:italic>SOD2<\/jats:italic> genes met the quality\u2010control criteria to be considered for statistical analysis. Genetic association was assessed using the family\u2010based transmission disequilibrium test in PLINK (a genome association analysis toolset).<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>Four SNPs in the <jats:italic>SOD1<\/jats:italic> gene (rs 202446, rs202447, rs4816405, and rs2070424) and one SNP in the <jats:italic>SOD2<\/jats:italic> gene (s 5746105) appeared to be associated with MM risk in our population. After adjusting for multiple testing, these SNPs remained significant.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>This study provides the first genetic evidence to support association of myelomeningocele with superoxide scavenging. The rare alleles of the five specific SNPs within <jats:italic>SOD1<\/jats:italic> and <jats:italic>SOD2<\/jats:italic> appear to confer a protective effect on the susceptibility for MM risk in the MM population tested. Further evaluation of the roles of superoxide scavenging and neural tube development is warranted. Birth Defects Research (Part A) 2012. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23065","type":"journal-article","created":{"date-parts":[[2012,9,13]],"date-time":"2012-09-13T06:29:08Z","timestamp":1347517748000},"page":"762-769","source":"Crossref","is-referenced-by-count":23,"title":["Association of copper\u2010zinc superoxide dismutase (<i>SOD1<\/i>) and manganese superoxide dismutase (<i>SOD2<\/i>) genes with nonsyndromic myelomeningocele"],"prefix":"10.1002","volume":"94","author":[{"given":"Benjamin A.","family":"Kase","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hope","family":"Northrup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alanna C.","family":"Morrison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina 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