Whole exome sequencing in familial Multiple Sclerosis

The purpose of the study is to determine whether variants of genes are associated with greater risk of Multiple Sclerosis (MS). We used whole-exome sequencing in 138 individuals from 23 families including at least 2 members with MS. We compare patients with MS, patients with other autoimmune diseases (AID), and unaffected individuals.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001005952	Familial Multiple Sclerosis study dataset, including variant calling files from 138 samples with three different phenotypes: Multiple Sclerosis (MS), other Autoimmune Diseases (AID) and unaffected individuals.		138

Publications	Citations
Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis. Torre-Fuentes L, Matías-Guiu JA, Pytel V, Montero-Escribano P, Maietta P, Álvarez S, Gómez-Pinedo U, Matías-Guiu J. CNS Neurosci Ther 26: 2020 1178-1184	2