Literature DB >> 29923609

Mini-review: Update on the genetics of schizophrenia.

Leda Coelewij1, David Curtis1,2.   

Abstract

A number of important findings have recently emerged relevant to identifying genetic risk factors for schizophrenia. Findings using common variants point towards gene sets of interest and also demonstrate an overlap with other psychiatric and nonpsychiatric disorders. Imputation of variants of the gene for complement component 4 (C4) from GWAS data has shown that the predicted expression of the C4A product is associated with schizophrenia risk. Very rare variants disrupting SETD1A, RBM12 or NRXN1 have a large effect on risk. Other rare, damaging variants are enriched in genes that are loss of function intolerant and/or whose products localise to the synapse. These and particular copy number variants can result in increased risk of schizophrenia but also of other neurodevelopmental disorders. The findings for C4 and NRXN1 may be especially helpful for elucidating the biological mechanisms that can lead to disease.
© 2018 John Wiley & Sons Ltd/University College London.

Entities:  

Keywords:  C4; CNV; NRXN; RBM12; SETD1A; genetics; schizophrenia

Mesh:

Substances:

Year:  2018        PMID: 29923609     DOI: 10.1111/ahg.12259

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN: 0003-4800            Impact factor:   1.670


  13 in total

1.  Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia.

Authors:  Thivia Balakrishna; David Curtis
Journal:  Schizophr Bull       Date:  2020-02-26       Impact factor: 9.306

2.  Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders.

Authors:  Xabier Calle Sánchez; Dorte Helenius; Jonas Bybjerg-Grauholm; Carsten Pedersen; David M Hougaard; Anders D Børglum; Merete Nordentoft; Ole Mors; Preben B Mortensen; Daniel H Geschwind; Simone Montalbano; Armin Raznahan; Wesley K Thompson; Andrés Ingason; Thomas Werge
Journal:  JAMA Psychiatry       Date:  2022-01-01       Impact factor: 21.596

3.  Genome-wide association study meta-analysis of suicide death and suicidal behavior.

Authors:  Qingqin S Li; Andrey A Shabalin; Emily DiBlasi; Srihari Gopal; Carla M Canuso; Aarno Palotie; Wayne C Drevets; Anna R Docherty; Hilary Coon
Journal:  Mol Psychiatry       Date:  2022-10-17       Impact factor: 13.437

4.  Neurodevelopmental concepts of schizophrenia in the genome-wide association era: AKT/mTOR signaling as a pathological mediator of genetic and environmental programming during development.

Authors:  Kristy R Howell; Amanda J Law
Journal:  Schizophr Res       Date:  2019-09-12       Impact factor: 4.939

Review 5.  NMDA receptor hypofunction for schizophrenia revisited: Perspectives from epigenetic mechanisms.

Authors:  Melissa A Snyder; Wen-Jun Gao
Journal:  Schizophr Res       Date:  2019-04-09       Impact factor: 4.939

6.  Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons.

Authors:  ChangHui Pak; Tamas Danko; Vincent R Mirabella; Jinzhao Wang; Yingfei Liu; Madhuri Vangipuram; Sarah Grieder; Xianglong Zhang; Thomas Ward; Yu-Wen Alvin Huang; Kang Jin; Philip Dexheimer; Eric Bardes; Alexis Mitelpunkt; Junyi Ma; Michael McLachlan; Jennifer C Moore; Pingping Qu; Carolin Purmann; Jeffrey L Dage; Bradley J Swanson; Alexander E Urban; Bruce J Aronow; Zhiping P Pang; Douglas F Levinson; Marius Wernig; Thomas C Südhof
Journal:  Proc Natl Acad Sci U S A       Date:  2021-06-01       Impact factor: 11.205

Review 7.  The cell biology of synapse formation.

Authors:  Thomas C Südhof
Journal:  J Cell Biol       Date:  2021-06-04       Impact factor: 10.539

8.  Interneuron Development Is Disrupted in Preterm Brains With Diffuse White Matter Injury: Observations in Mouse and Human.

Authors:  Helen B Stolp; Bobbi Fleiss; Yoko Arai; Veena Supramaniam; Regina Vontell; Sebastian Birtles; Abi G Yates; Ana A Baburamani; Claire Thornton; Mary Rutherford; A David Edwards; Pierre Gressens
Journal:  Front Physiol       Date:  2019-07-30       Impact factor: 4.566

9.  Concordance of Immune-Related Markers in Lymphocytes and Prefrontal Cortex in Schizophrenia.

Authors:  Eleonora Gatta; Vikram Saudagar; Jenny Drnevich; Marc P Forrest; James Auta; Lindsay V Clark; Henry Sershen; Robert C Smith; Dennis R Grayson; John M Davis; Alessandro Guidotti
Journal:  Schizophr Bull Open       Date:  2021-02-06

Review 10.  In Vitro and In Vivo Models for the Investigation of Potential Drugs Against Schizophrenia.

Authors:  Oliwia Koszła; Katarzyna M Targowska-Duda; Ewa Kędzierska; Agnieszka A Kaczor
Journal:  Biomolecules       Date:  2020-01-19
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