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Binks, S.N.M.* ; Elliott, K.S.* ; Muñiz-Castrillo, S.* ; Gilbert, E.* ; Kawasaki de Araujo, T.* ; Harper, A.R.* ; Brown, A.C.* ; Chong, A.Y.* ; Band, G.* ; Peris Sempere, V.* ; Pinto, A.L.* ; Costantino, F.* ; Rayner, N.W. ; Mentzer, A.J.* ; Delanty, N.* ; Rogemond, V.* ; Picard, G.* ; Handel, A.E.* ; Melzer, N.* ; Titulaer, M.J.* ; Lee, S.T.* ; Leypoldt, F.* ; Kuhlenbaeumer, G.* ; Honnorat, J.* ; Mignot, E.* ; Cavelleri, G.L.* ; Knight, J.C.* ; Irani, S.R.*

Novel risk loci in LGI1-antibody encephalitis: Genome-wide association study discovery and validation cohorts.

Brain 148, 737-745 (2024)

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Encephalitis with antibodies to leucine-rich glioma-inactivated 1 (LGI1-Ab-E) is a common form of autoimmune encephalitis, presenting with seizures and neuropsychiatric changes, predominantly in older males. More than 90% of patients carry the human leucocyte antigen (HLA) class II allele, HLA-DRB1*07:01. However, this is also present in 25% of healthy controls. Therefore, we hypothesised the presence of additional genetic predispositions. In this genome-wide association study and meta-analysis, we studied a discovery cohort of 131 French LGI1-Ab-E and a validation cohort of 126 American, British and Irish LGI1-Ab-E patients, ancestry-matched to 2613 and 2538 European controls, respectively. Outside the known major HLA signal, we found two single nucleotide polymorphisms (SNPs) at genome-wide significance (p < 5 x 10-8), implicating PTPRD, a protein tyrosine phosphatase, and LINC00670, a non-protein coding RNA gene. Meta-analysis defined four additional non-HLA loci, including the protein coding COBL gene. Polygenic risk scores with and without HLA variants proposed a contribution of non-HLA loci. In silico network analyses suggested LGI1 and PTPRD mediated interactions via the established receptors of LGI1, ADAM22 and ADAM23. Our results identify new genetic loci in LGI1-Ab-E. These findings present opportunities for mechanistic studies and offer potential markers of susceptibility, prognostics and therapeutic responses.

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