A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica

Karol Estrada; Christopher W. Whelan; Fengmei Zhao; Paola Bronson; Robert E. Handsaker; Chao Sun; John P. Carulli; Tim Harris; Richard M. Ransohoff; Steven A. McCarroll; Aaron G. Day-Williams; Benjamin M. Greenberg; Daniel G. MacArthur

doi:10.1038/s41467-018-04332-3

Nature Communications (May 2018)

A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica

Karol Estrada,
Christopher W. Whelan,
Fengmei Zhao,
Paola Bronson,
Robert E. Handsaker,
Chao Sun,
John P. Carulli,
Tim Harris,
Richard M. Ransohoff,
Steven A. McCarroll,
Aaron G. Day-Williams,
Benjamin M. Greenberg,
Daniel G. MacArthur

Affiliations

Karol Estrada: Translational Genome Sciences, Biogen
Christopher W. Whelan: Program in Medical and Population Genetics, Broad Institute of Harvard and MIT
Fengmei Zhao: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Paola Bronson: Translational Genome Sciences, Biogen
Robert E. Handsaker: Program in Medical and Population Genetics, Broad Institute of Harvard and MIT
Chao Sun: Translational Genome Sciences, Biogen
John P. Carulli: Translational Genome Sciences, Biogen
Tim Harris: Translational Genome Sciences, Biogen
Richard M. Ransohoff: Neuroimmunology, Acute Neurology and Pain, Biogen
Steven A. McCarroll: Program in Medical and Population Genetics, Broad Institute of Harvard and MIT
Aaron G. Day-Williams: Translational Genome Sciences, Biogen
Benjamin M. Greenberg: Department of Neurology and Neurotherapeutics, Department of Pediatrics, University of Texas Southwestern Medical Center
Daniel G. MacArthur: Program in Medical and Population Genetics, Broad Institute of Harvard and MIT

DOI: https://doi.org/10.1038/s41467-018-04332-3
Journal volume & issue: Vol. 9, no. 1
pp. 1 – 10

Abstract

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Neuromyelitis optica (NMO) is a rare autoimmune condition characterized by inflammation and demyelination of the optic nerve and the spinal cord. Here, Estrada et al. identify NMO susceptibility variants in the MHC region and find that autoantibody-positive NMO genetically overlaps with lupus.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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