Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications

By Patrick F. Sullivan, Mark J. Daly, M. O’Donovan. Nature reviews genetics, 2012

1,214 citations recorded by the source corpus.

Psychiatric disorders are among the most intractable enigmas in medicine. In the past 5 years, there has been unprecedented progress on the genetics of many of these conditions. In this Review, we discuss the genetics of nine cardinal psychiatric disorders (namely, Alzheimer's disease, attention-deficit hyperactivity disorder, alcohol dependence, anorexia nervosa, autism spectrum disorder, bipolar disorder, major depressive disorder, nicotine dependence and schizophrenia). Empirical approaches have yielded new hypotheses about aetiology and now provide data on the often debated genetic architectures of these conditions, which have implications for future research strategies. Further study using a balanced portfolio of methods to assess multiple forms of genetic variation is likely to yield many additional new findings.

Subfields: Cognitive Neuroscience, Genetics

View Paper: https://www.semanticscholar.org/paper/0daf00932712fc6331a171911cea4681ab7a668e

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Citations in the corpus

The Lancet Commission on global mental health and sustainable development. (2018, background): “67,114,115 Environmental stressors could affect mental health by influencing gene expression (eg, by turning genes on or off).”
Epigenomic Signatures of Neuronal Diversity in the Mammalian Brain (2015, background): “The balance of signaling across heterogeneous neurons is critical for healthy brain function, and disruptions of genes that mediate this balance are implicated in neurological and psychiatric diseases (Sullivan et al., 2012).”
Royal Australian and New Zealand College of Psychiatrists clinical practice guidelines for the management of schizophrenia and related disorders (2016, background): “Its aetiology has a major genetic component involving multiple genes of small effect, individual assortments of rare mutations (copy number variations) and molecular pathways that are likely to be heterogeneous, both within and across populations (Sullivan et al., 2012).”
A polygenic burden of rare disruptive mutations in schizophrenia (2014, methodology): “Sources included genome-wide CNV studies (Sullivan et al., 2012; Kirov et al., 2012), GWAS (Schizophrenia Psychiatric Genome-Wide Association Study Consortium, 2011; Cross-Disorder Group of the Psychiatric Genomics Consortium, 2013; Ripke et al.”
ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social-communication difficulties (2017, neutral): “Common genetic influences account for 25% to 33%19 of total liability to schizophrenia and up to 49% of total liability to ASD10,12.”