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The burden of multiple sclerosis variants in continental Italians and Sardinians. 2015
Nadia Barizzone, and
Ilenia Zara, and
Melissa Sorosina, and
Sara Lupoli, and
Eleonora Porcu, and
Maristella Pitzalis, and
Magdalena Zoledziewska, and
Federica Esposito, and
Maurizio Leone, and
Antonella Mulas, and
Eleonora Cocco, and
Paola Ferrigno, and
Franca R Guerini, and
Paola Brambilla, and
Gabriele Farina, and
Raffaele Murru, and
Francesca Deidda, and
Sonia Sanna, and
Alessia Loi, and
Cristina Barlassina, and
Domizia Vecchio, and
Andrea Zauli, and
Ferdinando Clarelli, and
Daniele Braga, and
Fausto Poddie, and
Roberto Cantello, and
Vittorio Martinelli, and
Giancarlo Comi, and
Jessica Frau, and
Lorena Lorefice, and
Maura Pugliatti, and
Giulio Rosati, and
, and
Maurizio Melis, and
Maria G Marrosu, and
Daniele Cusi, and
Francesco Cucca, and
Filippo Martinelli Boneschi, and
Serena Sanna, and
Sandra D'Alfonso
Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Novara, Italy/Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
BACKGROUND Recent studies identified > 100 non-HLA (human leukocyte antigen) multiple sclerosis (MS) susceptibility variants in Northern European populations, but their role in Southern Europeans is largely unexplored. OBJECTIVE We aimed to investigate the cumulative impact of those variants in two Mediterranean populations: Continental Italians and Sardinians. METHODS We calculated four weighted Genetic Risk Scores (wGRS), using up to 102 non-HLA MS risk variants and 5 HLA MS susceptibility markers in 1691 patients and 2194 controls from continental Italy; and 2861 patients and 3034 controls from Sardinia. We then assessed the differences between populations using Nagelkerke's R(2) and the area under the Receiver Operating Characteristic (ROC) curves. RESULTS As expected, the genetic burden (mean wGRS value) was significantly higher in MS patients than in controls, in both populations. Of note, the burden was significantly higher in Sardinians. Conversely, the proportion of variability explained and the predictive power were significantly higher in continental Italians. Notably, within the Sardinian patients, we also observed a significantly higher burden of non-HLA variants in individuals who do not carry HLA risk alleles. CONCLUSIONS The observed differences in MS genetic burden between the two Mediterranean populations highlight the need for more genetic studies in South Europeans, to further expand the knowledge of MS genetics.
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