Association of retinoic acid receptor genes with meningomyelocele.

Publication Date



Birth Defects Res A Clin Mol Teratol. 2011 January; 91(1): 39–43.


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.


Alleles, European Continental Ancestry Group, Female, Gene Frequency, Genetic Association Studies, Genotype, Hispanic Americans, Humans, Male, Meningomyelocele, Neural Tube Defects, Polymorphism, Single Nucleotide, Receptors, Retinoic Acid