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
Volume83
Ausgabe4
Pagination863-869
Datum der Veröffentlichung2018 04
ISSN1531-8249
SchlüsselwörterAdolescent, Adult, Aged, Autoantibodies, Encephalitis, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Hashimoto Disease, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Protein-Serine-Threonine Kinases, Proteins, Receptors, N-Methyl-D-Aspartate, Young Adult
Zusammenfassung

<p>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 single-nucleotide polymorphisms (SNPs) in the HLA-II region (leading SNP rs2858870 p = 1.22 × 10 , 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 zinc-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 < 2.2 × 10 ) and anti-NMDAR encephalitis with HLA-I allele B*07:02 (p = 0.039). No shared genetic risk factors between encephalitides were identified. Ann Neurol 2018;83:863-869.</p>

DOI10.1002/ana.25216
Alternate JournalAnn. Neurol.
PubMed ID29572931