Multiple sclerosis (MS) is an inflammatory demyelinating disease of central nervous system, with unknown etiology. Our recent studies unveiled an association between Epstein-Barr virus (EBV) genomic variants and MS, reinforcing the idea that EBV contributes to disease development. In an analysis of a region of the viral DNA coding for Epstein-Barr nuclear antigen 2 (EBNA2) protein, we showed that MS risk significantly correlated with an excess of 1.2 allele and under-representation of 1.3B allele.
Besides EBNA2, other loci of the complex EBV genome may impact on MS pathophysiology. In an exploratory study (granted by Ricerca di Ateneo 2013) where we completely sequenced EBV genomes derived from spontaneously outgrowing lymphoblastoid cell lines (spLCLs) of patients and healthy donors (HD), we observed that other EBV variants may be relevant for MS. Based on this background, our objective is to confirm the data on EBNA2 alleles association with MS, and to ascertain the statistical significance of other possible MS-associated EBV genomic variants. We aim to analyze a large and independent cohorts of 250 relapsing-remitting MS patients and age/sex matched HD with different geographic origin. For this purpose, we will analyse viral DNA obtained from blood samples with a digital droplet PCR (ddPCR-granted by Medie attrezzature 2015) approach that is precise and accurate, fast and affordable for screenings conducted on large populations.
