Defining the genetic architecture of Parkinson's disease in Spain

Researchers from the Neurodegenerative Diseases Group of IDIVAL have participated in the first study of genomic association (GWAs) in Parkinson's disease carried out in Spain. This is a study that has had the participation of 13 Spanish centers and has included 7,849 subjects with Parkinson's disease and healthy controls. The study has served to characterize the genetic architecture of Parkinson's disease in Spain.

In the study, published in the journal Movement Disorders, some of the genes whose contribution to the risk of Parkinson's disease have been known, such as LRRK2, SNCA, HLADQB1 and KANSL1-MAPT, have been replicated, but a new signal has also been identified in the PARK2 gene, associated with the age of onset of the disease, which had not been identified in other populations. The study has also shown that the influence of genetic factors on the risk of the disease is close to 30%.

This is the first GWAs study of Parkinson's disease that is carried out in the population of a single country. One of the hypotheses of the study that has been confirmed by the results is that since the genetic structure of the different populations is diverse, so can the genetic factors that regulate the risk of getting sick. In this sense, the study has also shown a greater diversity in the genetic structure of the Spanish population compared to other European populations.

This study is also the starting point of a broad national collaborative network that seeks to unravel the influence of genetic factors in Parkinson's disease.