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A comprehensive screening of copy number variability in dementia with Lewy bodies.

Artikel i vetenskaplig tidskrift
Författare Celia Kun-Rodrigues
Tatiana Orme
Susana Carmona
Dena G Hernandez
Owen A Ross
John D Eicher
Claire Shepherd
Laura Parkkinen
Lee Darwent
Michael G Heckman
Sonja W Scholz
Juan C Troncoso
Olga Pletnikova
Ted Dawson
Liana Rosenthal
Olaf Ansorge
Jordi Clarimon
Alberto Lleo
Estrella Morenas-Rodriguez
Lorraine Clark
Lawrence S Honig
Karen Marder
Afina Lemstra
Ekaterina Rogaeva
Peter St George-Hyslop
Elisabet Londos
Henrik Zetterberg
Imelda Barber
Anne Braae
Kristelle Brown
Kevin Morgan
Claire Troakes
Safa Al-Sarraj
Tammaryn Lashley
Janice Holton
Yaroslau Compta
Vivianna Van Deerlin
Geidy E Serrano
Thomas G Beach
Suzanne Lesage
Douglas Galasko
Eliezer Masliah
Isabel Santana
Pau Pastor
Monica Diez-Fairen
Miquel Aguilar
Pentti J Tienari
Liisa Myllykangas
Minna Oinas
Tamas Revesz
Andrew Lees
Brad F Boeve
Ronald C Petersen
Tanis J Ferman
Valentina Escott-Price
Neill Graff-Radford
Nigel J Cairns
John C Morris
Stuart Pickering-Brown
David Mann
Glenda M Halliday
John Hardy
John Q Trojanowski
Dennis W Dickson
Andrew Singleton
David J Stone
Rita Guerreiro
Jose Bras
Publicerad i Neurobiology of aging
Volym 75
ISSN 1558-1497
Publiceringsår 2019
Publicerad vid Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi
Språk en
Länkar dx.doi.org/10.1016/j.neurobiolaging...
www.ncbi.nlm.nih.gov/entrez/query.f...
Ämneskategorier Neurokemi

Sammanfattning

The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein, whereas the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting rare CNVs in genes previously associated with DLB or related neurodegenerative diseases, such as SNCA, APP, and MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk.

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