Article
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.
Nature medicine - 1 Dec 2020
Davies Robert W, Fiksinski Ania M, Breetvelt Elemi J, Williams Nigel M, Hooper Stephen R, Monfeuga Thomas, Bassett Anne S, Owen Michael J, Gur Raquel E, Morrow Bernice E, McDonald-McGinn Donna M, Swillen Ann, Chow Eva W C, van den Bree Marianne, Emanuel Beverly S, Vermeesch Joris R, van Amelsvoort Therese, Arango Celso, Armando Marco, Campbell Linda E, Cubells Joseph F, Eliez Stephan, Garcia-Minaur Sixto, Gothelf Doron, Kates Wendy R, Murphy Kieran C, Murphy Clodagh M, Murphy Declan G, Philip Nicole, Repetto Gabriela M, Shashi Vandana, Simon Tony J, Suñer Damiàn Heine, Vicari Stefano, Scherer Stephen W, Bearden Carrie E, Vorstman Jacob A S
Abstract excerpt
The 22q11.2 deletion syndrome (22q11DS) is associated with a 20-25% risk of schizophrenia. In a cohort of 962 individuals with 22q11DS, we examined the shared genetic basis between schizophrenia and schizophrenia-related early trajectory phenotypes: sub-threshold symptoms of psychosis, low baseline intellectual functioning and cognitive decline. We studied the association of these phenotypes with two polygenic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.