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The etiology of spina bifida is largely unknown, although it is thought to be multi-factorial, involving multiple interacting genes and environmental factors. Mutations in transcriptional co-activator genes-<jats:italic>Cited2<\/jats:italic>,<jats:italic>p300<\/jats:italic>,<jats:italic>Cbp<\/jats:italic>,<jats:italic>Tfap2\u03b1<\/jats:italic>,<jats:italic>Carm1<\/jats:italic>and<jats:italic>Cart1<\/jats:italic>result in NTDs in murine models, thus prompt us to investigate whether homologues of these genes are associated with NTDs in humans.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Data and biological samples from 297 spina bifida cases and 300 controls were derived from a population-based case-control study conducted in California. 37 SNPs within<jats:italic>CITED2<\/jats:italic>,<jats:italic>EP300<\/jats:italic>,<jats:italic>CREBBP<\/jats:italic>,<jats:italic>TFAP2A<\/jats:italic>,<jats:italic>CARM1<\/jats:italic>and<jats:italic>ALX1<\/jats:italic>were genotyped using an ABI SNPlex assay. Odds ratios and 95% confidence intervals were calculated for alleles, genotypes and haplotypes to evaluate the risk for spina bifida.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Several SNPs showed increased or decreased risk, including<jats:italic>CITED2<\/jats:italic>rs1131431 (OR = 5.32, 1.04~27.30),<jats:italic>EP300<\/jats:italic>rs4820428 (OR = 1.30, 1.01~1.67),<jats:italic>EP300<\/jats:italic>rs4820429 (OR = 0.50, 0.26~0.50, in whites, OR = 0.7, 0.49~0.99 in all subjects),<jats:italic>EP300<\/jats:italic>rs17002284 (OR = 0.43, 0.22~0.84),<jats:italic>TFAP2A<\/jats:italic>rs3798691 (OR = 1.78, 1.13~2.87 in Hispanics),<jats:italic>CREBBP<\/jats:italic>rs129986 (OR = 0.27, 0.11~0.69),<jats:italic>CARM1<\/jats:italic>rs17616105 (OR = 0.41, 0.22~0.72 in whites). In addition, one haplotype block in<jats:italic>EP300<\/jats:italic>and one in<jats:italic>TFAP2A<\/jats:italic>appeared to be associated with increased risk.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Modest associations were observed in<jats:italic>CITED2<\/jats:italic>,<jats:italic>EP300<\/jats:italic>,<jats:italic>CREBBP<\/jats:italic>,<jats:italic>TFAP2A<\/jats:italic>and<jats:italic>CARM1<\/jats:italic>but not<jats:italic>ALX1<\/jats:italic>. However, these modest associations were not statistically significant after correction for multiple comparisons. Searching for potential functional variants and rare causal mutations is warranted in these genes.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2350-11-141","type":"journal-article","created":{"date-parts":[[2010,10,8]],"date-time":"2010-10-08T18:15:52Z","timestamp":1286561752000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study"],"prefix":"10.1186","volume":"11","author":[{"given":"Wei","family":"Lu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian R","family":"Guzman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia J","family":"Chapa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary M","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert M","family":"Greene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Michele","family":"Pisano","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"}]},{"given":"Huiping","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,10,8]]},"reference":[{"key":"702_CR1","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1038\/ng768","volume":"29","author":"SD Bamforth","year":"2001","unstructured":"Bamforth SD, Braganca J, Eloranta JJ, Murdoch JN, Marques FI, Kranc KR, Farza H, Henderson DJ, Hurst HC, Bhattacharya S: Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. 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