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

by Fiksinski, Ania M. , Williams, Nigel M. , Davies, Robert W. , Bearden, Carrie E. , Repetto, Gabriela M. , Monfeuga, Thomas , Emanuel, Beverly S. , Breetvelt, Elemi J. , Campbell, Linda E. , Bassett, Anne S. , Swillen, Ann , Murphy, Kieran C. , Vermeesch, Joris R. , Scherer, Stephen W. , Garcia-Minaur, Sixto , Kates, Wendy R. , Hooper, Stephen R. , Arango, Celso , Cubells, Joseph F. , Suñer, Damiàn Heine , Gothelf, Doron , van den Bree, Marianne , Philip, Nicole , Shashi, Vandana , Morrow, Bernice E. , Murphy, Clodagh M. , van Amelsvoort, Therese , Simon, Tony J. , Gur, Raquel E. , Murphy, Declan G. , Eliez, Stephan , Chow, Eva W. C. , Armando, Marco , Vicari, Stefano , Owen, Michael J. , McDonald-McGinn, Donna M. , Vorstman, Jacob A. S.

in 631/208 / 631/208/1515 / 631/208/366 / 631/208/727 / 692/699/476 / Adolescent / Adult / Aged / Analysis / Biomedical and Life Sciences / Biomedicine / Cancer Research / Child / Child, Preschool / Cognitive ability / Cognitive Dysfunction - epidemiology / Cognitive Dysfunction - genetics / Cognitive Dysfunction - physiopathology / Cohort Studies / Comparative analysis / Deletion / Development and progression / DiGeorge syndrome / DiGeorge Syndrome - epidemiology / DiGeorge Syndrome - genetics / DiGeorge Syndrome - physiopathology / Female / Genetic aspects / Genetic diversity / Genetic variance / Genetic variation / Genetic Variation - genetics / Genetics / Health aspects / Human genetics / Humans / Infectious Diseases / Intellectual disabilities / Intellectual Disability - epidemiology / Intellectual Disability - genetics / Intellectual Disability - physiopathology / Intelligence / Life Sciences / Male / Mental disorders / Metabolic Diseases / Middle Aged / Molecular Medicine / Multifactorial Inheritance - genetics / Multifactorial traits / Neurosciences / Phenotype / Phenotypes / Phenotypic variations / Predictions / Psychosis / Quotients / Risk / Risk Factors / Schizophrenia / Schizophrenia - epidemiology / Schizophrenia - genetics / Schizophrenia - physiopathology / Young Adult

2020

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

2020

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

2020

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Journal Article

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

Fiksinski, Ania M.,

Williams, Nigel M.,

Davies, Robert W.,

Bearden, Carrie E.,

Repetto, Gabriela M.,

Monfeuga, Thomas,

Emanuel, Beverly S.,

Breetvelt, Elemi J.,

Campbell, Linda E.,

Bassett, Anne S.,

Swillen, Ann,

Murphy, Kieran C.,

Vermeesch, Joris R.,

Scherer, Stephen W.,

Garcia-Minaur, Sixto,

Kates, Wendy R.,

Hooper, Stephen R.,

Arango, Celso,

Cubells, Joseph F.,

Suñer, Damiàn Heine,

Gothelf, Doron,

van den Bree, Marianne,

Philip, Nicole,

Shashi, Vandana,

Morrow, Bernice E.,

Murphy, Clodagh M.,

van Amelsvoort, Therese,

Simon, Tony J.,

Gur, Raquel E.,

Murphy, Declan G.,

Eliez, Stephan,

Chow, Eva W. C.,

Armando, Marco,

Vicari, Stefano,

Owen, Michael J.,

McDonald-McGinn, Donna M.,

Vorstman, Jacob A. S.

2020

Overview

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 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. Polygenic risk scores are nearing a level of differentiation required for their clinical utility in risk prediction in populations with high-risk rare pathogenic genetic variants.

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Nature Publishing Group US,Nature Publishing Group

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