title: VEGF promoter haplotype and amyotrophic lateral sclerosis (ALS).
abstract: Vascular endothelial growth factor (VEGF) is a cytokine essential for angiogenesis. A recent study found that haplotypes, determined by three SNPs (-2,578C/A, - 1,154 G/A, and - 634G/C) in the VEGF upstream promoter/leader sequence, were associated with risk of amyotrophic lateral sclerosis(ALS). We used samples and data from a case-control study to examine the relation of ALS to VEGF haplotype. Genotypes at each of the three polymorphic sites were determined using allele-specific primer extension reactions followed by MALDI-TOF. We found a 3-fold increased risk among individuals homozygous for the AAG or AGG haplotypes (95%CI = 0.7 - 13.4), consistent with the findings of the previous study. Given the wide confidence interval, our findings should be interpreted cautiously.
authors.affiliation: Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health/DHHS, Research Triangle Park, NC 27709, USA. terry2@niehs.nih.gov
authors.forename: Paul D
authors.initials: PD
authors.lastname: Terry
authors.forename: Freya
authors.initials: F
authors.lastname: Kamel
authors.forename: David M
authors.initials: DM
authors.lastname: Umbach
authors.forename: Teresa A
authors.initials: TA
authors.lastname: Lehman
authors.forename: Howard
authors.initials: H
authors.lastname: Hu
authors.forename: Dale P
authors.initials: DP
authors.lastname: Sandler
authors.forename: Jack A
authors.initials: JA
authors.lastname: Taylor
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000097:blood / Q000235:genetics*; D001842:Bone and Bones / Q000737:chemistry; D016022:Case-Control Studies; D004781:Environmental Exposure; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007854:Lead / Q000032:analysis / Q000097:blood; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012907:Smoking; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*
chemical_list: D042461:Vascular Endothelial Growth Factor A; D007854:Lead