The Added Value of Family Material in the Discovery of Multiple Sclerosis Genes

Heather S Hain; Hakon Hakonarson

doi:10.1016/j.neuron.2016.05.027

The Added Value of Family Material in the Discovery of Multiple Sclerosis Genes

Neuron. 2016 Jun 1;90(5):905-6. doi: 10.1016/j.neuron.2016.05.027.

Authors

Heather S Hain¹, Hakon Hakonarson²

Affiliations

¹ Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
² Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: hakonarson@email.chop.edu.

PMID: 27253441
DOI: 10.1016/j.neuron.2016.05.027

Abstract

A mutation in a nuclear receptor (NR1H3) gene was detected in a familial, progressive form of multiple sclerosis (PPMS). Further analyses showed a significant association between a common NR1H3 variant in PPMS patients and loss of function for the encoded protein.

Keywords: nuclear receptor; progressive multiple sclerosis.

Publication types

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MeSH terms

Humans
Multiple Sclerosis / genetics*
Multiple Sclerosis, Chronic Progressive / genetics*
Mutation