VEGF promoter haplotype and amyotrophic lateral sclerosis (ALS)

J Neurogenet. 2004 Apr-Jun;18(2):429-34. doi: 10.1080/01677060490894450.

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.

MeSH terms

  • Amyotrophic Lateral Sclerosis / blood
  • Amyotrophic Lateral Sclerosis / genetics*
  • Bone and Bones / chemistry
  • Case-Control Studies
  • Environmental Exposure
  • Genetic Predisposition to Disease
  • Haplotypes
  • Homozygote
  • Humans
  • Lead / analysis
  • Lead / blood
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic*
  • Smoking
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
  • Vascular Endothelial Growth Factor A / genetics*

Substances

  • Vascular Endothelial Growth Factor A
  • Lead