title: Genes in glucose metabolism and association with spina bifida.
abstract: The authors test single nucleotide polymorphisms (SNPs) in coding sequences of 12 candidate genes involved in glucose metabolism and obesity for associations with spina bifida. Genotyping was performed on 507 children with spina bifida and their parents plus anonymous control DNAs from Hispanic and Caucasian individuals. The transmission disequilibrium test was performed to test for genetic associations between transmission of alleles and spina bifida in the offspring (P < .05). A statistically significant association between Lys481 of HK1 (G allele), Arg109Lys of LEPR (G allele), and Pro196 of GLUT1 (A allele) was found ( P = .019, .039, and .040, respectively). Three SNPs on 3 genes involved with glucose metabolism and obesity may be associated with increased susceptibility to spina bifida.
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Sciences, University of Texas Medical School at Houston, TX 77030, USA.
authors.forename: Christina M
authors.initials: CM
authors.lastname: Davidson
authors.forename: Hope
authors.initials: H
authors.lastname: Northrup
authors.forename: Terri M
authors.initials: TM
authors.lastname: King
authors.forename: Jack M
authors.initials: JM
authors.lastname: Fletcher
authors.forename: Irene
authors.initials: I
authors.lastname: Townsend
authors.forename: Gayle H
authors.initials: GH
authors.lastname: Tyerman
authors.forename: Kit Sing
authors.initials: KS
authors.lastname: Au
mesh_terms: D002374:Catalase / Q000235:genetics; D005260:Female; D020869:Gene Expression Profiling; D016158:Genes, p53; D020022:Genetic Predisposition to Disease; D005838:Genotype; D044882:Glucose Metabolism Disorders / Q000208:ethnology / Q000235:genetics*; D051272:Glucose Transporter Type 1 / Q000235:genetics*; D006593:Hexokinase / Q000235:genetics*; D006630:Hispanic or Latino / Q000706:statistics & numerical data; D006801:Humans; D020738:Leptin / Q000235:genetics; D008297:Male; D009765:Obesity / Q000208:ethnology / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011972:Receptor, Insulin / Q000235:genetics; D054411:Receptors, Leptin / Q000235:genetics*; D016135:Spinal Dysraphism / Q000208:ethnology / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics; D044465:White People / Q000706:statistics & numerical data
chemical_list: D051272:Glucose Transporter Type 1; D020738:Leptin; D054411:Receptors, Leptin; C495677:SLC2A1 protein, human; D002374:Catalase; D013482:Superoxide Dismutase; C472074:HK1 protein, human; D006593:Hexokinase; D011972:Receptor, Insulin