[Association between the VEGF -2578С/A polymorphism and amyotrophic lateral sclerosis in a Russian population]

Genetic predisposition plays an important role in the development of amyotrophic lateral sclerosis (ALS). One of the most promising candidate genes in ALS is the vascular endothelial growth factor (VEGF) gene. In a Russian population, 192 ALS patients (103 males and 89 females), aged from 20 to 83 years (52.0±13.4), were examined. A control group comprised 128 age- and sex-matched people. All individuals studied were Slavs. Polymorphism -2578С/А (rs699947) in the VEGF gene was studied by real-time PCR. It was shown that the genotype distribution was significantly different between the ALS and control groups (χ2=11.1; р=0.004); in the ALS cohort, the 2578A/A genotype was significantly more frequent (29.7% vs. 20.3%, p=0.04). The allele distribution was also significantly different between the two groups (χ2=4.4; р=0.036). The -2578А/А genotype increased risk of ALS (OR 1.66; 95% CI 1.03-2.29), and this pattern was most obvious in the male subgroup (OR=2.18; 95% CI 1.90-2.47). It was found the association of the 'risk' 2578A/A genotype with the earlier disease onset and rapid progression. Therefore, the results obtained in the study confirm the role of the VEGF gene in the pathogenesis of ALS in a Russian population.