title: Family-based association study between SLC2A1, HK1, and LEPR polymorphisms with myelomeningocele in Chile.
abstract: Obese/diabetic mothers present a higher risk to develop offspring with myelomeningocele (MM), evidence supporting the role of energy homeostasis-related genes in neural tube defects. Using polymerase chain reaction-restriction fragment length polymorphism, we have genotyped SLC2A1, HK1, and LEPR single-nucleotide polymorphisms in 105 Chilean patients with MM and their parents in order to evaluate allele-phenotype associations by means of allele/haplotype transmission test (TDT) and parent-of-origin effects. We detected an undertransmission for the SLC2A1 haplotype T-A (rs710218-rs2229682; P = .040), which was not significant when only lower MM (90% of the cases) was analyzed. In addition, the leptin receptor rs1137100 G allele showed a significant increase in the risk of MM for maternal-derived alleles in the whole sample (2.43-fold; P = .038) and in lower MM (3.20-fold; P = .014). Our results support the role of genes involved in energy homeostasis in the risk of developing MM, thus sustaining the hypothesis of diverse pathways and genetic mechanisms acting in the expression of such birth defect.
authors: 1Departmento de Nutrición, Diabetes y Metabolismo, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
authors: José
authors: J
authors: Suazo
authors: Rosa
authors: R
authors: Pardo
authors: Silvia
authors: S
authors: Castillo
authors: Luz Maria
authors: LM
authors: Martin
authors: Francisca
authors: F
authors: Rojas
authors: José Luis
authors: JL
authors: Santos
authors: Karin
authors: K
authors: Rotter
authors: Margarita
authors: M
authors: Solar
authors: Eva
authors: E
authors: Tapia
mesh_terms: D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002677:Chile / Q000453:epidemiology; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D051272:Glucose Transporter Type 1 / Q000235:genetics*; D006593:Hexokinase / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008591:Meningomyelocele / Q000453:epidemiology / Q000235:genetics*; D010290:Parents; D011110:Polymorphism, Genetic / Q000235:genetics*; D054411:Receptors, Leptin / Q000235:genetics*
chemical_list: D051272:Glucose Transporter Type 1; C515448:LEPR protein, human; D054411:Receptors, Leptin; C495677:SLC2A1 protein, human; C472074:HK1 protein, human; D006593:Hexokinase
keywords: HK1; LEPR; SLC2A1; energy homeostasis; myelomeningocele