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Heritability of schizophrenia

Germano Orrù, Mauro Giovanni Carta
Background: Bipolar Disorder (BD), along with depression and schizophrenia, is one of the most serious mental illnesses, and one of the top 20 causes of severe impairment in everyday life. Recent molecular studies, using both traditional approaches and new procedures such as Whole-Genome Sequencing (WGS), have suggested that genetic factors could significantly contribute to the development of BD, with heritability estimates of up to 85%. However, it is assumed that BD is a multigenic and multifactorial illness with environmental factors that strongly contribute to disease development/progression, which means that progress in genetic knowledge of BD might be difficult to interpret in clinical practice...
2018: Clinical Practice and Epidemiology in Mental Health: CP & EMH
Susan S Kuo, Laura Almasy, Ruben C Gur, Konasale Prasad, David R Roalf, Raquel E Gur, Vishwajit L Nimgaonkar, Michael F Pogue-Geile
Although cognition is one of the most important predictors of community functioning in schizophrenia, little is known about the causes of this correlation. To our knowledge, this study is the first to examine the extent to which this correlation is genetically mediated and whether the genetic correlation is specific to schizophrenia. Six hundred thirty-six participants from 43 multigenerational families with at least two relatives with schizophrenia and 135 unrelated controls underwent diagnostic interview and cognition and functioning assessment...
February 2018: Journal of Abnormal Psychology
Varun Warrier, Roberto Toro, Bhismadev Chakrabarti, Anders D Børglum, Jakob Grove, David A Hinds, Thomas Bourgeron, Simon Baron-Cohen
Empathy is the ability to recognize and respond to the emotional states of other individuals. It is an important psychological process that facilitates navigating social interactions and maintaining relationships, which are important for well-being. Several psychological studies have identified difficulties in both self-report and performance-based measures of empathy in a range of psychiatric conditions. To date, no study has systematically investigated the genetic architecture of empathy using genome-wide association studies (GWAS)...
March 12, 2018: Translational Psychiatry
Takahiro Otani, Hisashi Noma, Jo Nishino, Shigeyuki Matsui
Although enormous costs have been dedicated to discovering relevant disease-related genetic variants, especially in genome-wide association studies (GWASs), only a small fraction of estimated heritability can be explained by these results. This is the so-called missing heritability problem. The conventional use of overly conservative multiple testing strategies based on controlling the familywise error rate (FWER), in particular with a genome-wide significance threshold of P <5 × 10-8 , is one of the most important issues from a statistical perspective...
March 9, 2018: European Journal of Human Genetics: EJHG
T M Lancaster
BACKGROUND: Recent genome-wide association studies (GWAS) of striatal volumes and bipolar disorder (BD) indicate these traits are heritable and share common genetic architecture, however little independent work has been conducted to help establish this relationship. METHODS: Subcortical volumes (mm3 ) of young, healthy offspring of BD (N= 32) and major depressive disorder (MDD) patients (N= 158) were compared to larger healthy control sample (NRANGE = 925-1052) adjusting for potential confounds, using data from the latest release (S1200) of the Human Connectome Project...
February 17, 2018: Journal of Affective Disorders
Varun Warrier, Simon Baron-Cohen
Difficulties in 'theory of mind' (the ability to attribute mental states to oneself or others, and to make predictions about another's behaviour based on these attributions) have been observed in several psychiatric conditions. We investigate the genetic architecture of theory of mind in 4,577 13-year-olds who completed the Emotional Triangles Task (Triangles Task), a first-order test of theory of mind. We observe a small but significant female-advantage on the Triangles Task (Cohen's d = 0.19, P < 0...
February 22, 2018: Scientific Reports
Soo Yeon Kim, Byung Dae Lee, Je Min Park, Young Min Lee, Eunsoo Moon, Hee Jeong Jeong, Young In Chung
Categorical syndromes such as schizophrenia may represent complexes of many continuous psychological structural phenotypes along several dimensions of personality development/degeneration. The present study investigated the heritability and familiality of Neuroticism-Extraversion-Openness to experience (NEO) personality dimensions in Korean families with schizophrenic linkage disequilibrium (LD).We have recruited 204 probands (with schizophrenia) with their parents and siblings whenever possible. We have used NEO questionnaires for measuring personality and symptomatic dimensions...
February 2018: Medicine (Baltimore)
Armando D'Agostino, Anna Castelnovo, Simone Cavallotti, Cecilia Casetta, Matteo Marcatili, Orsola Gambini, Mariapaola Canevini, Giulio Tononi, Brady Riedner, Fabio Ferrarelli, Simone Sarasso
Sleep spindles and slow waves are the main brain oscillations occurring in non-REM sleep. Several lines of evidence suggest that spindles are initiated within the thalamus, whereas slow waves are generated and modulated in the cortex. A decrease in sleep spindle activity has been described in Schizophrenia (SCZ), including chronic, early course, and early onset patients. In contrast, slow waves have been inconsistently found to be reduced in SCZ, possibly due to confounds like duration of illness and antipsychotic medication exposure...
February 9, 2018: NPJ Schizophrenia
C Salvoro, S Bortoluzzi, A Coppe, G Valle, E Feltrin, M L Mostacciuolo, G Vazza
Schizophrenia (SCZ) and bipolar disorder (BPD) are highly heritable disorders with an estimated co-heritability of 68%. Hundreds of common alleles have been implicated, but recently a role for rare, high-penetrant variants has been also suggested in both disorders. This study investigated a familial cohort of SCZ and BPD patients from a closed population sample, where the high recurrence of the disorders and the homogenous genetic background indicate a possible enrichment in rare risk alleles. A total of 230 subjects (161 cases, 22 unaffected relatives, and 47 controls) were genetically investigated through an innovative strategy that integrates identity-by-descent (IBD) mapping and whole-exome sequencing (WES)...
February 6, 2018: Molecular Neurobiology
Axel Krug, Bruno Dietsche, Rebecca Zöllner, Dilara Yüksel, Markus M Nöthen, Andreas J Forstner, Marcella Rietschel, Udo Dannlowski, Bernhard T Baune, Robert Maier, Stephanie H Witt, Tilo Kircher
Schizophrenia is a disorder with a high heritability. Patients as well as their first degree relatives display lower levels of performance in a number of cognitive domains compared to subjects without genetic risk. Several studies could link these aberrations to single genetic variants, however, only recently, polygenic risk scores as proxies for genetic risk have been associated with cognitive domains and their neural correlates. In the present study, a sample of healthy subjects (n=137) performed a letter version of the n-back task while scanned with 3-T fMRI...
February 3, 2018: Schizophrenia Research
Matthew C Keller
Evolutionary medicine uses evolutionary theory to help elucidate why humans are vulnerable to disease and disorders. I discuss two different types of evolutionary explanations that have been used to help understand human psychiatric disorders. First, a consistent finding is that psychiatric disorders are moderately to highly heritable, and many, such as schizophrenia, are also highly disabling and appear to decrease Darwinian fitness. Models used in evolutionary genetics to understand why genetic variation exists in fitness-related traits can be used to understand why risk alleles for psychiatric disorders persist in the population...
January 24, 2018: Annual Review of Clinical Psychology
Olav B Smeland, Ole A Andreassen
Despite the consistent finding that cognitive dysfunction is a core characteristic of schizophrenia (SCZ), little is known about the underlying pathophysiology. Recent progress in human genetics, driven by large genome-wide association studies (GWAS), has provided new data about the genetic architecture of complex human traits, including cognition and SCZ. Novel analytical tools have provided unprecedented opportunities to leverage the large amount of information from GWAS. Here we review the latest findings related to genetic architecture and risk genes of SCZ and cognitive functions, and recent findings of overlapping genetic factors...
February 2018: Scandinavian Journal of Psychology
Jiajun Yin, Ningren Jia, Yansong Liu, Chunhui Jin, Fuquan Zhang, Shui Yu, Jun Wang, Jianmin Yuan
BACKGROUND: Schizophrenia (SCZ) is a severe and heritable psychiatric disorder, and previous studies have shown that regulation of the forkhead-box P2 gene (FOXP2) may play a role in schizophrenia. Moreover, just a few studies have identified a single nucleotide polymorphism (SNP) rs10447760 within the gene that was a risk variant for SCZ in the Chinese Han population. METHODS: To examine whether the variant in the FOXP2 gene contributes toward SCZ susceptibility, we carried out an association analysis of the SNP rs10447760 of the FOXP2 gene in a case-control study (1405 cases, 1137 controls) from China...
January 17, 2018: Psychiatric Genetics
Jie Song, Ralf Kuja-Halkola, Arvid Sjölander, Sarah E Bergen, Henrik Larsson, Mikael Landén, Paul Lichtenstein
BACKGROUND: Uncertainty remains whether bipolar I disorder (BDI) and bipolar II disorder (BDII) differ etiologically. We used a population-based family sample to examine the etiological boundaries between BDI and BDII by assessing their familial aggregation/coaggregation and by assessing the coaggregation between them and schizophrenia, depression, attention-deficit/hyperactivity disorder, eating disorders, autism spectrum disorder, substance use disorders, anxiety disorders, and personality disorders...
November 20, 2017: Biological Psychiatry
Georg Primes, Martin Fieder
In humans, prosocial behaviour is essential for social functioning. Twin studies suggest this distinct human trait to be partly hardwired. In the last decade research on the genetics of prosocial behaviour focused on neurotransmitters and neuropeptides, such as oxytocin, dopamine, and their respective pathways. Recent trends towards large scale medical studies targeting the genetic basis of complex diseases such as Alzheimer's disease and schizophrenia pave the way for new directions also in behavioural genetics...
2018: PloS One
Ayla Arslan
Schizophrenia (SZ) is a heritable brain disease originating from a complex interaction of genetic and environmental factors. The genes underpinning the neurobiology of SZ are largely unknown but recent data suggest strong evidence for genetic variations, such as single nucleotide polymorphisms, making the brain vulnerable to the risk of SZ. Structural and functional brain mapping of these genetic variations are essential for the development of agents and tools for better diagnosis, treatment and prevention of SZ...
January 11, 2018: International Journal of Molecular Sciences
Katherine E Tansey, Matthew J Hill
Genome-wide association studies have identified over 100 robust risk loci for schizophrenia with thousands of variants mediating genetic heritability, the majority of which reside in non-coding regions. Analytical approaches have shown this heritability is strongly enriched at variants within regulatory elements identified from human post-mortem brain tissue. However, bulk post-mortem brain tissue has a heterogeneous cell composition, making biological interpretations difficult. We sought to refine the cell types mediating schizophrenia heritability by separating neuronal and glial signals using data from: (1) NeuN-sorted post-mortem brain and (2) cell culture systems...
January 10, 2018: Translational Psychiatry
Alfonso Monaco, Anna Monda, Nicola Amoroso, Alessandro Bertolino, Giuseppe Blasi, Pasquale Di Carlo, Marco Papalino, Giulio Pergola, Sabina Tangaro, Roberto Bellotti
Research on brain disorders with a strong genetic component and complex heritability, such as schizophrenia, has led to the development of brain transcriptomics. This field seeks to gain a deeper understanding of gene expression, a key factor in exploring further research issues. Our study focused on how genes are associated amongst each other. In this perspective, we have developed a novel data-driven strategy for characterizing genetic modules, i.e., clusters of strongly interacting genes. The aim was to uncover a pivotal community of genes linked to a target gene for schizophrenia...
2018: PloS One
Philip Gorwood, Yann Le Strat, Nicolas Ramoz
The majority of addictive disorders have a significant heritability-roughly around 50%. Surprisingly, the most convincing association (a nicotinic acetylcholine receptor CHRNA5-A3-B4 gene cluster in nicotine dependence), with a unique attributable risk of 14%, was detected through a genome-wide association study (GWAS) on lung cancer, although lung cancer has a low heritability. We propose some explanations of this finding, potentially helping to understand how a GWAS strategy can be successful. Many endophenotypes were also assessed as potentially modulating the effect of nicotine, indirectly facilitating the development of nicotine dependence...
September 2017: Dialogues in Clinical Neuroscience
Femke M de Vrij, Christian G Bouwkamp, Nilhan Gunhanlar, Guy Shpak, Bas Lendemeijer, Maarouf Baghdadi, Shreekara Gopalakrishna, Mehrnaz Ghazvini, Tracy M Li, Marialuisa Quadri, Simone Olgiati, Guido J Breedveld, Michiel Coesmans, Edwin Mientjes, Ton de Wit, Frans W Verheijen, H Berna Beverloo, Dan Cohen, Rob M Kok, P Roberto Bakker, Aviva Nijburg, Annet T Spijker, P M Judith Haffmans, Erik Hoencamp, Veerle Bergink, Jacob A Vorstman, Timothy Wu, Loes M Olde Loohuis, Najaf Amin, Carolyn D Langen, Albert Hofman, Witte J Hoogendijk, Cornelia M van Duijn, M Arfan Ikram, Meike W Vernooij, Henning Tiemeier, André G Uitterlinden, Ype Elgersma, Ben Distel, Joost Gribnau, Tonya White, Vincenzo Bonifati, Steven A Kushner
Schizophrenia is highly heritable, yet its underlying pathophysiology remains largely unknown. Among the most well-replicated findings in neurobiological studies of schizophrenia are deficits in myelination and white matter integrity; however, direct etiological genetic and cellular evidence has thus far been lacking. Here, we implement a family-based approach for genetic discovery in schizophrenia combined with functional analysis using induced pluripotent stem cells (iPSCs). We observed familial segregation of two rare missense mutations in Chondroitin Sulfate Proteoglycan 4 (CSPG4) (c...
January 4, 2018: Molecular Psychiatry
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