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.
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.
Authors: Benjamin A Kase; Hope Northrup; Alanna C Morrison; Christina M Davidson; Amanda M Goiffon; Jack M Fletcher; Kathryn K Ostermaier; Gayle H Tyerman; Kit Sing Au Journal: Birth Defects Res A Clin Mol Teratol Date: 2012-09-13
Authors: María Agustina Raschia; Juan Pablo Nani; Daniel Omar Maizon; María José Beribe; Ariel Fernando Amadio; Mario Andrés Poli Journal: J Anim Sci Technol Date: 2018-12-12
Authors: Christopher M Seabury; Scot E Dowd; Paul M Seabury; Terje Raudsepp; Donald J Brightsmith; Poul Liboriussen; Yvette Halley; Colleen A Fisher; Elaine Owens; Ganesh Viswanathan; Ian R Tizard Journal: PLoS One Date: 2013-05-08 Impact factor: 3.240