Abstrakt
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=1.22x10(-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<2.2x10(-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