Idioma:

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

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

Nature Medicine, 2020-12, Vol.26 (12), p.1912-1918 [Periódico revisado por pares]

United States: Nature Publishing Group

Texto completo disponível

Citações Citado por

Enviar para

Título:
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
Autor: 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
Assuntos: Adolescent ; Adult ; Aged ; Analysis ; 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 ; Intellectual disabilities ; Intellectual Disability - epidemiology ; Intellectual Disability - genetics ; Intellectual Disability - physiopathology ; Intelligence ; Life Sciences ; Male ; Mental disorders ; Middle Aged ; Multifactorial Inheritance - genetics ; Multifactorial traits ; Phenotype ; Phenotypes ; Phenotypic variations ; Predictions ; Psychosis ; Quotients ; Risk ; Risk Factors ; Schizophrenia ; Schizophrenia - epidemiology ; Schizophrenia - genetics ; Schizophrenia - physiopathology ; Young Adult
É parte de: Nature Medicine, 2020-12, Vol.26 (12), p.1912-1918
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
PMCID: PMC7975627
J.A.S.V., R.W.D., A.M.F. and C.E.B. had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. R.W.D. and A.M.F. contributed equally to the study. Study concept and design: AIM II writing group: R.W.D., A.M.F., E.J.B., T.M., N.M.W., S.R.H., C.E.B. and J.A.S.V. Acquisition of data: M.J.O., M.v.d.B., D.G.M., C.A., J.A.S.V., A.M.F., S.N.D., S.E., M.S., M.J., M.A., S.V., V.S., S.R.H., E.W.C.C., D.M.M.-M., A.V., D.G., R.W., T.v.A., W.K., K.M.A., T.S., O.Y.O., A.S., R.E.G., C.E.B. and A.S.B. Analysis and interpretation of data: AIM II writing group: R.W.D., A.M.F., E.J.B., T.M., N.M.W., S.R.H., C.E.B. and J.A.S.V. Critical revision of the manuscript for important intellectual content: all authors. Statistical analysis: R.W.D., E.J.B., T.M., N.M.W. and J.A.S.V.
Author contributions
Descrição: 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.
Editor: United States: Nature Publishing Group
Idioma: Inglês

Links

Voltar para lista de resultados

Realização: Logos de Redes Sociais:

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

United States: Nature Publishing Group

Buscando em bases de dados remotas. Favor aguardar.