Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.

Autor: Lotte N Moens, Peter De Rijk, Joke Reumers, Maarten J A Van den Bossche, Wim Glassee, Sonia De Zutter, An-Sofie Lenaerts, Annelie Nordin, Lars-Göran Nilsson, Ignacio Medina Castello, Karl-Fredrik Norrback, Dirk Goossens, Kristel Van Steen, Rolf Adolfsson, Jurgen Del-Favero
Jazyk: angličtina
Rok vydání: 2011
Předmět:
Zdroj: PLoS ONE, Vol 6, Iss 8, p e23450 (2011)
Druh dokumentu: article
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0023450
Popis: In recent years, DISC1 has emerged as one of the most credible and best supported candidate genes for schizophrenia and related neuropsychiatric disorders. Furthermore, increasing evidence--both genetic and functional--indicates that many of its protein interaction partners are also involved in the development of these diseases. In this study, we applied a pooled sample 454 sequencing strategy, to explore the contribution of genetic variation in DISC1 and 10 of its interaction partners (ATF5, Grb2, FEZ1, LIS-1, PDE4B, NDE1, NDEL1, TRAF3IP1, YWHAE, and ZNF365) to schizophrenia susceptibility in an isolated northern Swedish population. Mutation burden analysis of the identified variants in a population of 486 SZ patients and 514 control individuals, revealed that non-synonymous rare variants with a MAF
Databáze: Directory of Open Access Journals