Jornal da doença de Alzheimer e parkinsonismo

Abstrato

Exploring the Genetic Architecture of Parkinson's Disease in a Southern Spanish Population

Sara Bandrés Ciga ,Clara Ruz ,Francisco J Barrero ,Francisco Escamilla Sevilla ,Javier Pelegrina ,Manuel Ramirez ,Francisco Vives ,Raquel Duran *

In the recent years, the emergence of new technologies has revolutionized our concepts to identify genetic mechanisms implicated in Parkinson's disease (PD). Genome-wide association studies (GWAS) have been key in such enormous advance. To the best of our knowledge we have conducted the first GWAS of PD in a Spanish population. We replicated the association of 5 reported PD-related loci at nominal p-value, and our cumulative risk score was consistent with studies performed in other European populations. We did not manage to identify any novel rare variant through single variant and gene-based tests and we assume that there may be structural genomic variation conferring risk for PD poorly covered or undetectable by the array. We conclude that in complex genetic disorders such as PD, collaboration drives progress and real advances can only be made by large consortiums cooperating with collaborative spirit. In the years to come, interpretation of the risk in the context of disease pathogenesis will be the main goal to reach.