Ultrarare Coding Variants and Cognitive Function in Schizophrenia—Unraveling the Enduring Mysteries of Neuropsychiatric Genetics

Braff, David L.; Bigdeli, Tim B.

doi:10.1001/jamapsychiatry.2022.2030

Cited by 2 publications

(2 citation statements)

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“…Rare disruptive coding variants influencing neuronal functioning processes, including differentiation, synaptic organization and transmission have been found in patients with schizophrenia. Schizophrenia is considered a complex brain disorder involving cortical and subcortical dysfunction with a spectrum of variations ( 14 ). The common variant associations at 287 genomic loci and 120 genes (106 protein-coding) identified by gene prioritization as likely to have causal roles in schizophrenia will be the focus of investigations for years to come to answer the profoundly complex challenges in our understanding of schizophrenia ( 15 ).…”

Section: Discussionmentioning

confidence: 99%

Psychiatric genetic counseling for patients with schizophrenia and their families

Kotzé

Zwide

2022

Front. Psychiatry

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Steady progress in the field of psychiatric genetics, generating new and fascinating insight into the genetic and phenotypic complexity of schizophrenia and other serious mental illnesses, have created an increased need of psychiatric genetic counseling. It is a crucial aspect of psychiatric clinical practice to ensure a balanced approach that takes into consideration genetic and environmental risk factors and ongoing education in this rapidly developing field is essential. Genetic counseling will be increasingly important to assist patients with schizophrenia and their families to make a meaningful informed decision about genetic testing. It will preempt unrealistic expectations, discrimination and stigma related to incomplete understanding of genetic test results in the psychiatric context.

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Section: Discussionmentioning

confidence: 99%

Psychiatric genetic counseling for patients with schizophrenia and their families

Kotzé

Zwide

2022

Front. Psychiatry

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“…SZ is considered a heritable disorder with an estimated heritability rate of approximately 80 %. However, there are more than 270 loci that have been reported so far to be associated with SZ, there is no single gene can explain the cause of the disease [ 4 , 5 ]. Like other psychiatric disorders, SZ is a multifactorial disorder, which involves the interplay between genetic, epigenetic, and environmental factors [ 6 , 7 ].…”

Section: Introductionmentioning

confidence: 99%