The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

Nature Communications · Feb 25, 2020Peer-reviewedBioinformatics

The genetic architecture of Parkinson disease in Spain: characterizing population-specific risk, differential haplotype structures, and providing etiologic insight

Sara Bandrés‐Ciga, Sarah Ahmed, Marya S. Sabir, Cornelis Blauwendraat, Astrid Daniela Adarmes-Gómez, Inmaculada Bernal‐Bernal, Marta Bonilla‐Toribio, Dolores Buiza‐Rueda, Fátima Carrillo, Mario Carrión‐Claro, Pilar Gómez‐Garre, Silvia Jesús, Miguel Ángel Labrador‐Espinosa, Daniel Macías, Carlota Méndez‐del‐Barrio, , Andrew Singleton

This study conducts a GWAS of Parkinson disease in Spain, identifies a novel population-specific signal at PARK2 associated with age-at-onset, and highlights genetic substructure for future fine-mapping.

Movement Disorders · Oct 29, 2019Peer-reviewedNeuroscience

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

Regina Hertfelder Reynolds, Juan Antonio Botía, Mike A. Nalls, Alastair John Noyce, Aude Nicolas, Mark Cookson, Sara Bandrés‐Ciga, Jesse Raphael Gibbs, Dena G. Hernandez, Andrew Singleton, Xylena Reed, Hampton L. Leonard, Cornelis Blauwendraat, Faraz Faghri, José Brás, , Oriol Dols‐Icardo

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.

npj Parkinson s Disease · Apr 17, 2019Peer-reviewedGenomics