Genetic predisposition in anti-LGI1 and anti-NMDA receptor encephalitis
| Autor: | Klaus-Peter Wandinger, Stefanie H. Mueller, Andre Franke, Tania Kümpfel, Christoph Kellinghaus, Sven Ehrlich, Robert Handreka, Uwe K. Zettl, Gregor Kuhlenbäumer, Marius Ringelstein, Jürgen H. Faiss, Christian G. Bien, Max Kaufmann, Florian Then Bergh, Martin Elisak, Kevin Rostasy, Jan Lewerenz, Anna Färber, Kurt-Wolfram Sühs, Nico Melzer, Frank Leypoldt, Harald Prüss, Franziska S. Thaler, Andrea Kraft, Kristin S. Golombeck, Wolfgang Lieb |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Autoimmune encephalitis Anti-NMDA receptor encephalitis Haplotype Single-nucleotide polymorphism Genome-wide association study Biology medicine.disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Neurology Immunology Genetic predisposition medicine Neurology (clinical) Allele 030217 neurology & neurosurgery Encephalitis |
| Zdroj: | Annals of Neurology. 83:863-869 |
| ISSN: | 0364-5134 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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