Article
A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.
Journal of neurology - 1 Aug 2022
Sorosina Melissa, Barizzone Nadia, Clarelli Ferdinando, Anand Santosh, Lupoli Sara, Salvi Erika, Mangano Eleonora, Bordoni Roberta, Roostaei Tina, Mascia Elisabetta, Zuccalà Miriam, Vecchio Domizia, Cavalla Paola, Santoro Silvia, Ferrè Laura, Zollo Alen, Barlassina Cristina, Cusi Daniele, Martinelli Vittorio, Comi Giancarlo, Leone Maurizio, Filippi Massimo, Patsopoulos Nikolaos A, De Jager Philip L, De Bellis Gianluca, Esposito Federica, D'Alfonso Sandra, Martinelli Boneschi Filippo
Abstract excerpt
BACKGROUND: Over 200 genetic loci have been associated with multiple sclerosis (MS) explaining ~ 50% of its heritability, suggesting that additional mechanisms may account for the "missing heritability" phenomenon. OBJECTIVE: To analyze a large cohort of Italian individuals to identify markers associated with MS with potential functional impact in the disease. METHODS: We studied 2571 MS and 3234 healthy controls...
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