| Literature DB >> 29572931 |
Stefanie H Mueller1, Anna Färber2, Harald Prüss3, Nico Melzer4, Kristin S Golombeck4, Tania Kümpfel5, Franziska Thaler5, Martin Elisak6, Jan Lewerenz7, Max Kaufmann8, Kurt-Wolfram Sühs9, Marius Ringelstein10, Christoph Kellinghaus11, Christian G Bien12, Andrea Kraft13, Uwe K Zettl14, Sven Ehrlich15, Robert Handreka16, Kevin Rostásy17, Florian Then Bergh18, Jürgen H Faiss19, Wolfgang Lieb20, Andre Franke21, Gregor Kuhlenbäumer1, Klaus-Peter Wandinger2,22, Frank Leypoldt1,2.
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.Entities:
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Year: 2018 PMID： 29572931 DOI： 10.1002/ana.25216
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422