[HTML][HTML] Environmental risk factors for schizophrenia and bipolar disorder and their relationship to genetic risk: current knowledge and future directions

N Robinson, SE Bergen - Frontiers in genetics, 2021 - frontiersin.org
Schizophrenia (SZ) and bipolar disorder (BD) are severe psychiatric disorders which result
from complex interplay between genetic and environmental factors. It is well-established that …

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon… - Nature, 2018 - nature.com
There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

G Genovese, M Fromer, EA Stahl, DM Ruderfer… - Nature …, 2016 - nature.com
By analyzing the exomes of 12,332 unrelated Swedish individuals, including 4,877
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …

Gene expression elucidates functional impact of polygenic risk for schizophrenia

M Fromer, P Roussos, SK Sieberts, JS Johnson… - Nature …, 2016 - nature.com
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

T Singh, BM Neale, MJ Daly - MedRxiv, 2020 - medrxiv.org
By meta-analyzing the whole-exomes of 24,248 cases and 97,322 controls, we implicate
ultra-rare coding variants (URVs) in ten genes as conferring substantial risk for …

De novo mutations in schizophrenia implicate synaptic networks

M Fromer, AJ Pocklington, DH Kavanagh, HJ Williams… - Nature, 2014 - nature.com
Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de
novo) mutations, in the form of large chromosomal copy number changes, occur in a small …

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

V Turcot, Y Lu, HM Highland, C Schurmann… - Nature …, 2018 - nature.com
Genome-wide association studies (GWAS) have identified> 250 loci for body mass index
(BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters …

Genetic architecture of schizophrenia: a review of major advancements

SE Legge, ML Santoro, S Periyasamy… - Psychological …, 2021 - cambridge.org
Schizophrenia is a severe psychiatric disorder with high heritability. Consortia efforts and
technological advancements have led to a substantial increase in knowledge of the genetic …

The synapse in traumatic brain injury

AAB Jamjoom, J Rhodes, PJD Andrews, SGN Grant - Brain, 2021 - academic.oup.com
Traumatic brain injury (TBI) is a leading cause of death and disability worldwide and is a risk
factor for dementia later in life. Research into the pathophysiology of TBI has focused on the …

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

R Do, NO Stitziel, HH Won, AB Jørgensen, S Duga… - Nature, 2015 - nature.com
Myocardial infarction (MI), a leading cause of death around the world, displays a complex
pattern of inheritance,. When MI occurs early in life, genetic inheritance is a major …