A Novel Susceptibility Locus in NFASC Highlights Oligodendrocytes and Myelination in Progressive Supranuclear Palsy Pathology
Pablo García‐GonzáleziD, Héctor Rodrigo Lara, Yaroslau ComptaiD, Manuel Fernandez, Sven J. van der LeeiD, Itziar de RojasiD, Laura Saiz-AúziD, Cèlia PainousiD, Ana Camara, Esteban MuñoziD, Marı́a José Martı́iD, Francesc ValldeoriolaiD, Raquel PuertaiD, Ignacio Illán‐GalaiD, Javier PagonabarragaiD, Oriol Dols‐IcardoiD, Jaime KulisevskyiD, Juan ForteaiD, Alberto LleóiD, Clàudia OlivéiD, Sterre C.M. de BoeriD, Marc HulsmaniD, Yolande A.L. PijnenburgiD, Rafael Díaz BellosoiD, Laura Muñoz‐DelgadoiD, , Agustı́n RuiziD
Abstract
We conducted the largest PSP GWAS of the Iberian population to date (522 cases from 22 Spanish and Portuguese institutions). We independently replicated seven known PSP risk variants, and unveiled a novel locus in NFASC/CNTN2 after meta-analysing our results with a newly available Dutch cohort and publicly available summary statistics. These findings highlight the importance of neuron-oligodendrocyte interactions in PSP etiopathology.
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