Clinical features of UK Biobank subjects carrying protein-truncating variants in genes implicated in schizophrenia pathogenesis

Article Psychiatry

Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank

Rebecca Birnbaum et al.

Summary: This study clinically characterized individuals harboring neurodevelopmental disorder-related copy number variants (CNVs) in a multiancestry biobank, and identified their enrichment for congenital disorders and major depressive disorder as well as association with several medical outcomes, including hypertension, kidney failure, and obesity. The importance of diverse inclusion and considering rare genetic variants in a multiancestry context within biobanks is evident.

JAMA PSYCHIATRY (2022)

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Article Multidisciplinary Sciences

Rare coding variants in ten genes confer substantial risk for schizophrenia

Tarjinder Singh et al.

Summary: Rare coding variants in certain genes, particularly those related to the function of the nervous system, are found to be significantly associated with schizophrenia. The involvement of specific receptor subunits in the glutamatergic system supports the hypothesis of dysfunction in this system as a mechanism in the development of schizophrenia. The findings suggest that both common and rare genetic risk factors are involved in the pathogenesis of schizophrenia, and more risk genes are yet to be discovered using this approach.

NATURE (2022)

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Article Genetics & Heredity

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Joseph D. Szustakowski et al.

Summary: The UK Biobank Exome Sequencing Consortium is a successful collaborative project between UK Biobank and biopharmaceutical companies, providing valuable rare coding variation resources for drug discovery. The project has strengthened academic and industry ties and promoted interaction and learning within the wider research community.

NATURE GENETICS (2021)

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Article Genetics & Heredity

Haploinsufficiency of the HIRA gene may not always produce severe neurodevelopmental consequences

David Curtis

Summary: A recent report identified three patients with de novo truncating variants in the HIRA gene, but only one had depression while the others did not show major neuropsychiatric phenotypes. Variants causing haploinsufficiency of HIRA are rare and not always associated with neurodevelopmental disorder.

PSYCHIATRIC GENETICS (2021)

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Article Psychiatry