Association of retinoic acid receptor genes with meningomyelocele
| Autor: | Kit Sing Au, Alanna C. Morrison, Hope Northrup, Phong X. Tran, Jack M. Fletcher, Kathryn K. Ostermaier, Gayle H. Tyerman |
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| Rok vydání: | 2010 |
| Předmět: |
Male
Embryology medicine.medical_specialty Meningomyelocele Genotype Receptors Retinoic Acid Retinoic acid Biology Polymorphism Single Nucleotide White People Article chemistry.chemical_compound Gene Frequency Polymorphism (computer science) Internal medicine medicine Humans Neural Tube Defects Allele Receptor Gene Alleles Genetic Association Studies Retinoic Acid Receptor alpha Neural tube Genetic variants General Medicine Hispanic or Latino Molecular biology Retinoic acid receptor Endocrinology medicine.anatomical_structure chemistry Pediatrics Perinatology and Child Health Female Developmental Biology |
| Zdroj: | Birth defects research. Part A, Clinical and molecular teratology. 91(1) |
| ISSN: | 1542-0760 |
| Popis: | 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.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.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 p0.05.RAR genes were associated with risk for MM. For all associated SNPs, the rare allele conferred a protective effect for MM susceptibility. |
| Databáze: | OpenAIRE |
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