RT Journal Article SR Electronic T1 HLA class II allele DRB1*16:02 is associated with anti-NMDAR encephalitis JF Journal of Neurology, Neurosurgery & Psychiatry JO J Neurol Neurosurg Psychiatry FD BMJ Publishing Group Ltd SP 652 OP 658 DO 10.1136/jnnp-2018-319714 VO 90 IS 6 A1 Yaqing Shu A1 Wei Qiu A1 Junfeng Zheng A1 Xiaobo Sun A1 Junping Yin A1 Xiaoli Yang A1 Xiaoyang Yue A1 Chen Chen A1 Zhihui Deng A1 Shasha Li A1 Yu Yang A1 Fuhua Peng A1 Zhengqi Lu A1 Xueqiang Hu A1 Frank Petersen A1 Xinhua Yu YR 2019 UL http://jnnp.bmj.com/content/90/6/652.abstract AB Background and objective Aetiology and pathogenesis of anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis, the most common autoimmune encephalitis, is largely unknown. Since an association of the disease with the human leucocyte antigen (HLA) has not been shown so far, we here investigated whether anti-NMDAR encephalitis is associated with the HLA locus.Methods HLA loci of 61 patients with anti-NMDAR encephalitis and 571 healthy controls from the Chinese Han population were genotyped and analysed for this study.Results Our results show that the DRB1*16:02 allele is associated with anti-NMDAR encephalitis (OR 3.416, 95% CI 1.817 to 6.174, p=8.9×10−5, padj=0.021), with a higher allele frequency in patients (14.75%) than in controls (4.82%). This association was found to be independent of tumour formation. Besides disease susceptibility, DRB1*16:02 is also related to the clinical outcome of patients during treatment, where patients with DRB1*16:02 showed a lower therapeutic response to the treatment than patients with other HLA alleles (p=0.033). Bioinformatic analysis using HLA peptide-binding prediction algorithms and computational docking suggested a close relationship between the NR1 subunit of NMDAR and the DRB1*16:02.Conclusions This study for the first time demonstrates an association between specific HLA class II alleles and anti-NMDAR encephalitis, providing novel insights into the pathomechanism of the disease.