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.

Keywords:

• vascular endothelial growth factor
• amyotrophic lateral sclerosis
• epidemiologic studies
• haplotypes