An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients.

doi:10.3390/genes12101607

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Article

An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients.

Genes - 13 Oct 2021

Barizzone Nadia, Cagliani Rachele, Basagni Chiara, Clarelli Ferdinando, Mendozzi Laura, Agliardi Cristina, Forni Diego, Tosi Martina, Mascia Elisabetta, Favero Francesco, Corà Davide, Corrado Lucia, Sorosina Melissa, Esposito Federica, Zuccalà Miriam, Vecchio Domizia, Liguori Maria, Comi Cristoforo, Comi Giancarlo, Martinelli Vittorio, Filippi Massimo, Leone Maurizio, Martinelli-Boneschi Filippo, Caputo Domenico, Sironi Manuela, Guerini Franca Rosa, D'Alfonso Sandra

Abstract excerpt

Known multiple sclerosis (MS) susceptibility variants can only explain half of the disease's estimated heritability, whereas low-frequency and rare variants may partly account for the missing heritability. Thus, here we sought to determine the occurrence of rare functional variants in a large Italian MS multiplex family with five affected members. For this purpose, we combined linkage analysis and next-generation...

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PMID: 34681001
DOI: 10.3390/genes12101607
PMCID: PMC8535321

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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