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Association of retinoic acid receptor genes with meningomyelocele

✍ Scribed by Phong X. Tran; Kit Sing Au; Alanna C. Morrison; Jack M. Fletcher; Kathryn K. Ostermaier; Gayle H. Tyerman; Hope Northrup

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 81 KB
Volume: 91
Category: Article
ISSN: 1542-0752
DOI: 10.1002/bdra.20744

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✦ Synopsis

BACKGROUND: Neural tube defects (NTDs) occur in as many as 0.5-2 per 1000 live births in the United 'States. One of the most common and severe neural tube defects is meningomyelocele (MM) resulting from failed closure of the caudal end of the neural tube. MM has been induced by retinoic acid teratogenicity in rodent models. We hypothesized that genetic variants influencing retinoic acid (RA) induction via retinoic acid receptors (RARs) may be associated with risk for MM. METHODS: We analyzed 47 single nucleotide polymorphisms (SNPs) that span across the three retinoic acid receptor genes using the SNPlex genotyping platform. Our cohort consisted of 610 MM families. RESULTS: One variant in the RARA gene (rs12051734), three variants in the RARB gene (rs6799734, rs12630816, rs17016462), and a single variant in the RARG gene (rs3741434) were found to be statistically significant at p < 0.05. CONCLUSION: RAR genes were associated with risk for MM. For all associated SNPs, the rare allele conferred a protective effect for MM susceptibility. Birth Defects Research (Part A) 91: 39-43, 2011.

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