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Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes.

Human mutation - 1 Jul 2020

Gil-Varea Elia, Spataro Nino, Villar Luisa María, Tejeda-Velarde Amalia, Midaglia Luciana, Matesanz Fuencisla, Malhotra Sunny, Eixarch Herena, Patsopoulos Nikolaos, Fernández Óscar, Oliver-Martos Begoña, Saiz Albert, Llufriu Sara, Ramió-Torrentà Lluís, Quintana Ester, Izquierdo Guillermo, Alcina Antonio, Bosch Elena, Navarro Arcadi, Montalban Xavier, Comabella Manuel

Abstract excerpt

Although genome-wide association studies have identified a number of common variants associated with multiple sclerosis (MS) susceptibility, little is known about the relevance of rare variants. Here, we aimed to explore the role of rare variants in 14 MS risk genes (FCRL1, RGS1, TIMMDC1, HHEX, CXCR5, LTBR, TSFM, GALC, TRAF3, STAT3, TNFSF14, IFI30, CD40, and CYP24A1) by targeted resequencing in an Iberian...

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PMID: 32196808
DOI: 10.1002/humu.24016

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