Yu E., Krohn L., Ruskey JA., Asayesh F., Spiegelman D., Shah Z., Chia R., Arnulf I., Hu MTM., Montplaisir JY., Gagnon J-F., Desautels A., Dauvilliers Y., Gigli GL., Valente M., Janes F., Bernardini A., Högl B., Stefani A., Ibrahim A., Heidbreder A., Sonka K., Dusek P., Kemlink D., Oertel W., Janzen A., Plazzi G., Antelmi E., Figorilli M., Puligheddu M., Mollenhauer B., Trenkwalder C., Sixel-Döring F., Cochen De Cock V., Ferini-Strambi L., Dijkstra F., Viaene M., Abril B., Boeve BF., Rouleau GA., Postuma RB., International LBD Genomics Consortium ., Scholz SW., Gan-Or Z.

Synucleinopathies-related disorders such as Lewy body dementia (LBD) and isolated/idiopathic REM sleep behavior disorder (iRBD) have been associated with neuroinflammation. In this study, we examined whether the human leukocyte antigen (HLA) locus plays a role in iRBD and LBD. In iRBD, HLA-DRB1*11:01 was the only allele passing FDR correction (OR = 1.57, 95% CI = 1.27-1.93, p = 2.70e-05). We also discovered associations between iRBD and HLA-DRB1 70D (OR = 1.26, 95%CI = 1.12-1.41, p = 8.76e-05), 70Q (OR = 0.81, 95%CI = 0.72-0.91, p = 3.65e-04) and 71R (OR = 1.21, 95%CI = 1.08-1.35, p = 1.35e-03). Position 71 (pomnibus = 0.00102) and 70 (pomnibus = 0.00125) were associated with iRBD. Our results suggest that the HLA locus may have different roles across synucleinopathies.

HLA in isolated REM sleep behavior disorder and Lewy body dementia.

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