dc.creator | Blauwendraat, Cornelis | es |
dc.creator | Iwaki, Hirotaka | es |
dc.creator | Makarious, Mary B. | es |
dc.creator | Bandres-Ciga, Sara | es |
dc.creator | Leonard, Hampton L. | es |
dc.creator | Grenn, Francis P. | es |
dc.creator | Labrador-Espinosa, Miguel Á. | es |
dc.creator | Singleton, Andrew B. | es |
dc.date.accessioned | 2022-10-31T16:25:43Z | |
dc.date.available | 2022-10-31T16:25:43Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Blauwendraat, C., Iwaki, H., Makarious, M.B., Bandres-Ciga, S., Leonard, H.L., Grenn, F.P.,...,Singleton, A.B. (2021). Investigation of autosomal genetic sex differences in Parkinson's disease. Annals of neurology, 90 (1), 35-42. https://doi.org/10.1002/ana.26090. | |
dc.identifier.issn | 0364-5134 | es |
dc.identifier.issn | 1531-8249 (electrónico) | es |
dc.identifier.uri | https://hdl.handle.net/11441/138549 | |
dc.description.abstract | Objective: Parkinson’s disease (PD) is a complex neurodegenerative disorder. Men are on average 1.5 times more
likely to develop PD compared to women with European ancestry. Over the years, genomewide association studies
(GWAS) have identified numerous genetic risk factors for PD, however, it is unclear whether genetics contribute to dis ease etiology in a sex-specific manner.Methods: In an effort to study sex-specific genetic factors associated with PD, we explored 2 large genetic datasets from the
International Parkinson’s Disease Genomics Consortium and the UK Biobank consisting of 13,020 male PD cases, 7,936 paternal
proxy cases, 89,660 male controls, 7,947 female PD cases, 5,473 maternal proxy cases, and 90,662 female controls. We per formed GWAS meta-analyses to identify distinct patterns of genetic risk contributing to disease in male versus female PD cases.
Results: In total, 19 genomewide significant regions were identified and no sex-specific effects were observed. A high
genetic correlation between the male and female PD GWAS were identified (rg = 0.877) and heritability estimates
were identical between male and female PD cases (~ 20%).
Interpretation: We did not detect any significant genetic differences between male or female PD cases. Our study
does not support the notion that common genetic variation on the autosomes could explain the difference in preva lence of PD between males and females cases at least when considering the current sample size under study. Further
studies are warranted to investigate the genetic architecture of PD explained by X and Y chromosomes and further
evaluate environmental effects that could potentially contribute to PD etiology in male versus female patients. | es |
dc.format | application/pdf | es |
dc.format.extent | 8 p. | es |
dc.language.iso | eng | es |
dc.publisher | Wiley-Liss | es |
dc.relation.ispartof | Annals of neurology, 90 (1), 35-42. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Parkinson's disease | es |
dc.title | Investigation of autosomal genetic sex differences in Parkinson's disease | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Medicina | es |
dc.relation.publisherversion | https://onlinelibrary.wiley.com/doi/10.1002/ana.26090 | es |
dc.identifier.doi | 10.1002/ana.26090 | es |
dc.journaltitle | Annals of neurology | es |
dc.publication.volumen | 90 | es |
dc.publication.issue | 1 | es |
dc.publication.initialPage | 35 | es |
dc.publication.endPage | 42 | es |