Association of folate receptor (folr1, folr2, folr3) and reduced folate carrier (slc19a1) genes with meningomyelocele
| Autor: | Sabine Doebel, Kit Sing Au, Hope Northrup, Alanna C. Morrison, Jack M. Fletcher, Michelle R. O'Byrne, Jone Ing Lin, Kathryn K. Ostermaier, Gayle H. Tyerman |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male Embryology medicine.medical_specialty Meningomyelocele Adolescent Genetic Linkage Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide White People Article Cohort Studies Reduced Folate Carrier Protein Young Adult Genetic linkage Internal medicine medicine Humans Folate Receptor 1 Folate Receptor 2 Child Gene Genetic Association Studies Genetics Neural tube Infant Hispanic or Latino General Medicine Middle Aged medicine.anatomical_structure Endocrinology Reduced Folate Carrier Folate receptor Child Preschool Pediatrics Perinatology and Child Health Female Folate receptor 1 Carrier Proteins Developmental Biology |
| Zdroj: | Birth Defects Research Part A: Clinical and Molecular Teratology. 88:689-694 |
| ISSN: | 1542-0752 |
| DOI: | 10.1002/bdra.20706 |
| Popis: | Meningomyelocele (MM) results from lack of closure of the neural tube during embryologic development. Periconceptional folic acid supplementation is a modifier of MM risk in humans, leading toan interest in the folate transport genes as potential candidates for association to MM.This study used the SNPlex Genotyping (ABI, Foster City, CA) platform to genotype 20 single polymorphic variants across the folate receptor genes (FOLR1, FOLR2, FOLR3) and the folate carrier gene (SLC19A1) to assess their association to MM. The study population included 329 trio and 281 duo families. Only cases with MM were included. Genetic association was assessed using the transmission disequilibrium test in PLINK.A variant in the FOLR2 gene (rs13908), three linked variants in the FOLR3 gene (rs7925545, rs7926875, rs7926987), and two variants in the SLC19A1 gene (rs1888530 and rs3788200) were statistically significant for association to MM in our population.This study involved the analyses of selected single nucleotide polymorphisms across the folate receptor genes and the folate carrier gene in a large population sample. It provided evidence that the rare alleles of specific single nucleotide polymorphisms within these genes appear to be statistically significant for association to MM in the patient population that was tested. |
| Databáze: | OpenAIRE |
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