Abstract
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder where neuroinflammation plays an important role; previous data suggest that cytokines are strongly involved. A group of ALS patients were studied for immune protein polymorphisms: a case-control study to determine statistically significant differences in allelic, genotypic and haplotypic frequencies of 22 genetic polymorphisms of 13 cytokines was performed. The aim was the detection of a risk profile for the potential identification of individuals prone to disease and the discovery of possible targets for medication or lifestyle modification. From statistical analysis a significant difference was observed in polymorphisms of IL-1β +3962 (genotype: CC p = 0.0347; CT p = 0.0149), TGF-β codon 25 (genotype: CG p = 0.0126; GG p = 0.013) and TNF-α -238 (genotype: AA p = 0.019). We take into consideration all possible haplotypes, observing a significance of TG haplotype in two IL-2 gene polymorphisms (-330, + 166; p =0.0038), and CC haplotype of TGF-β (codon 10, codon 25; p = 0.022).Furthermore, significant differences in IL-β1 and TNF-α mRNA expression between patients and controls were demonstrated. This is a starting study to understand the multiple factors involved in the onset and in the progression of ALS, with particular attention given on inflammatory genes.
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