Genetic predisposition in anti-LGI1 and anti-NMDA receptor encephalitis.
basic_science · Level V
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- Record sourced from PubMed, PMID 29572931.
- Also identified by DOI 10.1002/ana.25216.
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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<sup>-17</sup> , 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<sup>-16</sup> ) 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.
Medical subject headings
- Autoantibodies
- Encephalitis
- Genetic Predisposition to Disease
- Hashimoto Disease
- Polymorphism, Single Nucleotide
- Protein Serine-Threonine Kinases
- Proteins