Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

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dc.contributor.authorDavies, Robert W.
dc.contributor.authorFiksinski, Ania M.
dc.contributor.authorBreetvelt, Elemi J.
dc.contributor.authorWilliams, Nigel M.
dc.contributor.authorHooper, Stephen R.
dc.contributor.authorMonfeuga, Thomas
dc.contributor.authorBassett, Anne S.
dc.contributor.authorOwen, Michael J.
dc.contributor.authorGur, Raquel E.
dc.contributor.authorMorrow, Bernice E.
dc.contributor.authorMcDonald-McGinn, Donna M.
dc.contributor.authorSwillen, Ann
dc.contributor.authorChow, Eva W. C.
dc.contributor.authorBree, Marianne van den
dc.contributor.authorEmanuel, Beverly S.
dc.contributor.authorVermeesch, Joris R.
dc.contributor.authorAmelsvoort, Therese van
dc.contributor.authorArango, Celso
dc.contributor.authorArmando, Marco
dc.contributor.authorCampbell, Linda E.
dc.contributor.authorCubells, Joseph F.
dc.contributor.authorEliez, Stephan
dc.contributor.authorGarcia-Minaur, Sixto
dc.contributor.authorGothelf, Doron
dc.contributor.authorKates, Wendy R.
dc.contributor.authorMurphy, Kieran C.
dc.contributor.authorMurphy, Clodagh M.
dc.contributor.authorMurphy, Declan G.
dc.contributor.authorPhilip, Nicole
dc.contributor.authorRepetto, Gabriela
dc.contributor.authorShashi, Vandana
dc.contributor.authorSimon, Tony J.
dc.contributor.authorSuñer, Damiàn Heine
dc.contributor.authorVicari, Stefano
dc.contributor.authorScherer, Stephen W.
dc.contributor.authorBearden, Carrie E.
dc.contributor.authorVorstman, Jacob A. S.
dc.contributor.authorInternational 22q11.2 Brain and Behavior Consortium
dc.date.accessioned2021-08-04T19:33:02Z
dc.date.available2021-08-04T19:33:02Z
dc.date.issued2020
dc.description.abstractThe 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 scores, derived for schizophrenia and intelligence, and evaluated their use for individual risk prediction in 22q11DS. Polygenic scores were not only associated with schizophrenia and baseline intelligence quotient (IQ), respectively, but schizophrenia polygenic score was also significantly associated with cognitive (verbal IQ) decline and nominally associated with sub-threshold psychosis. Furthermore, in comparing the tail-end deciles of the schizophrenia and IQ polygenic score distributions, 33% versus 9% of individuals with 22q11DS had schizophrenia, and 63% versus 24% of individuals had intellectual disability. Collectively, these data show a shared genetic basis for schizophrenia and schizophrenia-related phenotypes and also highlight the future potential of polygenic scores for risk stratification among individuals with highly, but incompletely, penetrant genetic variants.es
dc.format.extent13 p.es
dc.identifier.citationNature Medicine. 2020 Dec;26(12):1912-1918es
dc.identifier.urihttps://doi.org/10.1038/s41591-020-1103-1es
dc.identifier.urihttp://hdl.handle.net/11447/4226
dc.language.isoenes
dc.subjectGenetic variationes
dc.subjectPhenotypic expressiones
dc.subject22q11DSes
dc.subject22q11.2 deletion syndromees
dc.subjectSchizophreniaes
dc.titleUsing common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndromees
dc.typeArticlees

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