Genetic predisposition in anti-LGI1 and anti-NMDA receptor encephalitis.

TitelGenetic predisposition in anti-LGI1 and anti-NMDA receptor encephalitis.
MedientypJournal Article
Jahr der Veröffentlichung2018
AutorenMueller SH, Färber A, Prüss H, Melzer N, Golombeck KS, Kümpfel T, Thaler F, Elisak M, Lewerenz J, Kaufmann M, Sühs K-W, Ringelstein M, Kellinghaus C, Bien CG, Kraft A, Zettl UK, Ehrlich S, Handreka R, Rostásy K, Bergh FThen, Faiss JH, Lieb W, Franke A, Kuhlenbäumer G, Wandinger K-P, Leypoldt F
Corporate AuthorsGerman Network for Research on Autoimmune Encephalitis(GENERATE)
JournalAnn Neurol
Datum der Veröffentlichung2018 Mar 23

We performed a genome-wide-association study in 1,194 controls and 150 patients with anti-N-methyl-D-aspartate receptor (anti-NMDAR, n=96) or anti-leucine-rich glioma-inactivated1 (anti-LGI1, n=54) autoimmune encephalitis. Anti-LGI1 encephalitis was highly associated with 27 SNPs in the HLA-II region (leading SNP rs2858870 P=1.22x10, OR=13.66 [7.50-24.87]). Potential associations, below genome-wide significance, were found with rs72961463 close to the doublecortin-like kinase 2 gene (DCLK2) and rs62110161 in a cluster of zink-finger genes. HLA allele imputation identified association of anti-LGI1 encephalitis with HLA-II haplotypes encompassing DRB1*07:01, DQA1*02:01 and DQB1*02:02 (P<2.2x10), and anti-NMDAR encephalitis with HLA-I allele B*07:02 (P=0.039). No shared genetic risk factors between encephalitides were identified. This article is protected by copyright. All rights reserved.

Alternate JournalAnn. Neurol.
PubMed ID29572931