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Risk factors for neural tube defects: Associations between uncoupling protein 2 polymorphisms and spina bifida†
Article first published online: 20 MAR 2003
Copyright © 2003 Wiley-Liss, Inc., A Wiley Company
Birth Defects Research Part A: Clinical and Molecular Teratology
Volume 67, Issue 3, pages 158–161, March 2003
How to Cite
Volcik, K. A., Shaw, G. M., Zhu, H., Lammer, E. J. and Finnell, R. H. (2003), Risk factors for neural tube defects: Associations between uncoupling protein 2 polymorphisms and spina bifida. Birth Defects Research Part A: Clinical and Molecular Teratology, 67: 158–161. doi: 10.1002/bdra.10019
- Issue published online: 20 MAR 2003
- Article first published online: 20 MAR 2003
- Manuscript Accepted: 21 OCT 2002
- Manuscript Revised: 15 OCT 2002
- Manuscript Received: 17 JUN 2002
- Centers for Disease Control and Prevention
- Centers of Excellence for Surveillance, Research, Service and Evaluation of Birth Defects. Grant Number: U50\CCU 913241
- National Institutes of Health. Grant Numbers: DE13613, HL55940
Polymorphisms in the mitochondrial membrane transporter gene UCP2 are capable of affecting energy metabolism, body weight regulation, and possibly preventing the buildup of reactive oxygen species, all factors that could contribute to neural tube defect risk through maternal obesity and diabetes.
Genomic DNA was extracted from newborn screening blood spots obtained from infants with spina bifida and nonmalformed control infants. Genotype frequencies of two genetic variants in the UCP2 gene, an amino acid substitution of valine for alanine at codon 55 in exon 4, and a 45-base pair insertion/deletion in the 3′ untranslated region of exon 8, were determined by restriction enzyme digestion of PCR amplification products.
We found the frequency of the 3′untranslated region deletion homozygous genotype (256/256) as well as the A55V homozygous (Val/Val) genotype to be higher in SB infants than in controls (odds ratio [OR], 3.1; 95% confidence interval [CI], 0.9–10.4 and OR = 2.0; 95% CI = 0.3–11.1, respectively). Additionally, the frequency of the combined homozygous 256/256,+/+ genotype was higher in cases and resulted in more than a threefold higher spina bifida risk (OR = 3.6; 95% CI = 1.0–13.1).
These data are the first to suggest that polymorphisms in the UCP2 gene may be genetic risk factors of spina bifida. Birth Defects Research (Part A) 67158–161, 2003. © 2003 Wiley-Liss, Inc.