Genome-wide Association Study Identifies 2 New Loci Associated With Anti-NMDAR Encephalitis.
Journal
Neurology(R) neuroimmunology & neuroinflammation
ISSN: 2332-7812
Titre abrégé: Neurol Neuroimmunol Neuroinflamm
Pays: United States
ID NLM: 101636388
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
received:
16
03
2021
accepted:
09
07
2021
entrez:
29
9
2021
pubmed:
30
9
2021
medline:
5
2
2022
Statut:
epublish
Résumé
To investigate the genetic determinants of the most common type of antibody-mediated autoimmune encephalitis, anti-NMDA receptor (anti-NMDAR) encephalitis. We performed a genome-wide association study in 178 patients with anti-NMDAR encephalitis and 590 healthy controls, followed by a colocalization analysis to identify putatively causal genes. We identified 2 independent risk loci harboring genome-wide significant variants ( This study provides evidence for relevant genetic determinants of antibody-mediated autoimmune encephalitides outside the human leukocyte antigen (HLA) region. The results suggest that future studies with larger sample sizes will successfully identify additional genetic determinants and contribute to the elucidation of the pathomechanism.
Sections du résumé
BACKGROUND AND OBJECTIVES
To investigate the genetic determinants of the most common type of antibody-mediated autoimmune encephalitis, anti-NMDA receptor (anti-NMDAR) encephalitis.
METHODS
We performed a genome-wide association study in 178 patients with anti-NMDAR encephalitis and 590 healthy controls, followed by a colocalization analysis to identify putatively causal genes.
RESULTS
We identified 2 independent risk loci harboring genome-wide significant variants (
DISCUSSION
This study provides evidence for relevant genetic determinants of antibody-mediated autoimmune encephalitides outside the human leukocyte antigen (HLA) region. The results suggest that future studies with larger sample sizes will successfully identify additional genetic determinants and contribute to the elucidation of the pathomechanism.
Identifiants
pubmed: 34584012
pii: 8/6/e1085
doi: 10.1212/NXI.0000000000001085
pmc: PMC8479862
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Investigateurs
Markus Kraemer
(M)
Wolfgang Heide
(W)
Stephan Schreiber
(S)
Marina Entscheva
(M)
Jürgen Hartmut Faiss
(JH)
Robert Berger
(R)
Oliver Stammel
(O)
Anna Hoffmann
(A)
Günter Seidel
(G)
Robert Handreka
(R)
Harald Prüß
(H)
Josef Priller
(J)
Carsten Finke
(C)
Paul Friedemann
(P)
Peter Körtvélyessy
(P)
Henning Stolze
(H)
Astrid Blaschek
(A)
Sebastian Bauer
(S)
Felix Rosenow
(F)
Kai Siebenbrodt
(K)
Susanne Knake
(S)
Benjamin Wunderlich
(B)
Sven Ehrlich
(S)
Lena Edelhoff
(L)
Judith Wagner
(J)
George Trendelenburg
(G)
Anna Gorsler
(A)
Sebastian Baatz
(S)
Sonka Benesch
(S)
Matthias von Mering
(M)
Armin Grau
(A)
Christian Urbanek
(C)
Gernot Reimann
(G)
Tobias Neumann-Haefelin
(T)
Thomas Pfefferkorn
(T)
Sascha Berning
(S)
Christoph Kellinghaus
(C)
Michael Nagel
(M)
Andreas Binder
(A)
Mona Dreeesmann
(M)
Fatme Seval Ismail
(FS)
Ulrich Hofstadt-van Oy
(UH)
Christian Bien
(C)
Marcel Gebhard
(M)
Frank Hoffmann
(F)
Andrea Kraft
(A)
Franz Blaes
(F)
Corinna Bien
(C)
Andeas Linsa
(A)
Katharina Eisenhut
(K)
Joachim Havla
(J)
Franziska Thaler
(F)
Tanja Kümpfel
(T)
Til Menge
(T)
Manuel Friese
(M)
Max Kaufmann
(M)
Martin Stangel
(M)
Kurt-Wolfram Sühs
(KW)
Corinna Trebst
(C)
Jost Obrocki
(J)
Jens Schaumberg
(J)
Ilya Ayzenberg
(I)
Kerstin Hellwig
(K)
Christos Krogias
(C)
Friedrich Ebinger
(F)
Alexander Finke
(A)
Marie-Luise Mono
(ML)
Daniel Bittner
(D)
Stefan Bittner
(S)
Simone Tauber
(S)
Martin Häusler
(M)
Annette Baumgartner
(A)
Anne-Katrin Pröbstel
(AK)
Stephan Rüegg
(S)
Sarah Bernsen
(S)
Alexandra Philipsen
(A)
Hendrik Rohner
(H)
Philip Hillebrand
(P)
Sigrid Wöpking
(S)
Michael Karenfort
(M)
Nico Melzer
(N)
Sven Meuth
(S)
Saskia Jania Räuber
(SJ)
Marius Ringelstein
(M)
Regina Trollmann
(R)
Raphael Reinecke
(R)
Dominique Endres
(D)
Karin Storm van S Gravesande
(K)
Felix von Poderwils
(F)
Steffen Syrbe
(S)
Bettina Balint
(B)
Brigitte Wildemann
(B)
Carolin Baade-Büttner
(C)
Christian Geis
(C)
Chung Ha-Yeun
(C)
Jonathan Wickel
(J)
Michael Malter
(M)
Walid Fazeli
(W)
Muriel Stoppe
(M)
Florian Then Bergh
(FT)
Johannes Piepgras
(J)
Valentin Held
(V)
Lara Zieger
(L)
Marco Gallus
(M)
Oliver Grauer
(O)
Stjepana Kovac
(S)
Christoph Lehric
(C)
Jan Lünemann
(J)
Gerd Meyer Zu Hörste
(G)
Heinz Wiendl
(H)
Andre Dik
(A)
Catharina Groß
(C)
Kristin Stefanie Melzer
(KS)
Johanna Maria Helena Rau
(JM)
Christine Strippel
(C)
Constanze Mönig
(C)
Karsten Witt
(K)
Robert Weissert
(R)
Marina Flotats-Bastardas
(M)
Simon Schuster
(S)
Ina Schröder
(I)
Frank Leypoldt
(F)
Andreas van Baalen
(A)
Justina Dargvainiene
(J)
Martina Jansen
(M)
Ina-Isabelle Schmütz
(II)
Gesa Schreyer
(G)
Klaus-Peter Wandinger
(KP)
Halime Gül
(H)
Jan Lewerenz
(J)
Loana Penner
(L)
Makbule Senel
(M)
Hayrettin Tumani
(H)
Methab Türedi
(M)
Luise Appeltshauser
(L)
Kathrin Doppler
(K)
Claudia Sommer
(C)
Dirk Fitzner
(D)
Jens Schmidt
(J)
Niels Hansen
(N)
Kevin Rostasy
(K)
Michael Adelmann
(M)
Informations de copyright
Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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