Genes in glucose metabolism and association with spina bifida.

Publication Date



Reprod Sci. 2008 January; 15(1): 51–58.


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.


Catalase, European Continental Ancestry Group, Female, Gene Expression Profiling, Genes, p53, Genetic Predisposition to Disease, Genotype, Glucose Metabolism Disorders, Glucose Transporter Type 1, Hexokinase, Hispanic Americans, Humans, Leptin, Male, Obesity, Polymorphism, Single Nucleotide, Receptor, Insulin, Receptors, Leptin, Spinal Dysraphism, Superoxide Dismutase