International Journal of Neurology and Brain Disorders
- 1Laboratory of Immunogenetics, Department of Biology & Biotechnology L. Spallanzani, University of Pavia, Pavia, Italy
- 2Inter-department Multiple Sclerosis Research Centre, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy
- 3Laboratory of Experimental Neurobiology, IRCCS National Neurological Institute C. Mondino, Pavia, Italy
- 4Department of Neurological Sciences, University of Pavia, Pavia, Italy
- 5Division of General Neurology, IRCCS National Neurological Institute C. Mondino, Pavia, Italy
Mariaclara Cuccia, Head of Immunogenetics laboratory, Department of Biology and Biotechnology, University of Pavia, Via Ferrata 1, 27100 Pavia, Italy, Tel: (39)0382-985529; Fax: (39)0382-528496; E-mail: firstname.lastname@example.org
Cuccia, M., et al. Risk Profile for Amyotrophic Lateral Sclerosis (ALS): An Approach with the Study on Cytokine Polymorphisms. (2016) Int J Neurol Brain Disord 3(1): 1-3.
© 2016 Cuccia, M. This is an Open access article distributed under the terms of Creative Commons Attribution 4.0 International License.
KeywordsAmyotrophic Lateral Sclerosis; Cytokines Polymorphisms
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.