Genes, Vol. 12, Pages 1607: An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients
Genes, Vol. 12, Pages 1607: An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients
Genes doi: 10.3390/genes12101607
Authors:
Nadia Barizzone
Rachele Cagliani
Chiara Basagni
Ferdinando Clarelli
Laura Mendozzi
Cristina Agliardi
Diego Forni
Martina Tosi
Elisabetta Mascia
Francesco Favero
Davide Corà
Lucia Corrado
Melissa Sorosina
Federica Esposito
Miriam Zuccalà
Domizia Vecchio
Maria Liguori
Cristoforo Comi
Giancarlo Comi
Vittorio Martinelli
Massimo Filippi
Maurizio Leone
Filippo Martinelli-Boneschi
Domenico Caputo
Manuela Sironi
Franca Rosa Guerini
Sandra D’Alfonso
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 sequencing (NGS)-based whole exome and whole genome sequencing (WES and WGS, respectively). The genetic burden attributable to known common MS variants was also assessed by weighted genetic risk score (wGRS). We found a significantly higher burden of common variants in the affected family members compared to that observed among sporadic MS patients and healthy controls (HCs)....
Source: Genes - Category: Genetics & Stem Cells Authors: Nadia Barizzone Rachele Cagliani Chiara Basagni Ferdinando Clarelli Laura Mendozzi Cristina Agliardi Diego Forni Martina Tosi Elisabetta Mascia Francesco Favero Davide Cor à Lucia Corrado Melissa Sorosina Federica Esposito Miriam Zuccal à Domizia Vecchi Tags: Article Source Type: research