Results
Title

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

Authors

Mueller, Stefanie H.; Färber, Anna; Prüss, Harald; Melzer, Nico; Golombeck, Kristin S.; Kümpfel, Tania; Thaler, Franziska; Elisak, Martin; Lewerenz, Jan; Kaufmann, Max; Sühs, Kurt‐Wolfram; Ringelstein, Marius; Kellinghaus, Christoph; Bien, Christian G.; Kraft, Andrea; Zettl, Uwe K.; Ehrlich, Sven; Handreka, Robert; Rostásy, Kevin; Then Bergh, Florian

Abstract

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 × 10-17 , 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 × 10-16 ) 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.

Subjects

METHYL aspartate receptors; SINGLE nucleotide polymorphisms; ENCEPHALITIS; ASPARTIC acid; HLA histocompatibility antigens; SEQUENCE analysis; GENETIC markers; GENOTYPES; DISEASE risk factors

Publication

Annals of Neurology, 2018, Vol 83, Issue 4, p863

ISSN

0364-5134

Publication type

Academic Journal

DOI

10.1002/ana.25216