scholarly journals Genetics and psychosis

2014 ◽  
Vol 20 (1) ◽  
pp. 69-70
Author(s):  
Alastair G. Cardno
Keyword(s):  
Psychotic Disorders ◽  
Association Studies ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Copy Number Variants ◽  
Genetic Influences ◽  
Genome Wide Association Studies ◽  
Adoption Studies ◽  
Genome Wide ◽  
Partial Overlap

SummaryGenetic research into psychotic disorders is advancing rapidly. On the basis of general evidence for genetic influences from family, twin and adoption studies, molecular genetic studies, particularly genome-wide association studies (GWAS), are identifying a range of common genetic risk factors that each have a small effect on risk, while certain chromosomal copy number variants (CNVs) are rarer, but have a larger effect on risk. There is also evidence for partial overlap of genetic influences among psychotic disorders and with non-psychotic disorders. This brief article summarises the main themes, current findings and potential future directions.

scholarly journals Insights into Dyslexia Genetics Research from the Last Two Decades

2021 ◽  
Vol 12 (1) ◽  
pp. 27
Author(s):  
Florina Erbeli ◽  
Marianne Rice ◽  
Silvia Paracchini
Keyword(s):  
Language Disorder ◽  
Association Studies ◽  
Neurodevelopmental Disorder ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Twin Studies ◽  
Genome Wide Association Studies ◽  
Genetics Research ◽  
Genome Wide ◽  
Genetic Risks

Dyslexia, a specific reading disability, is a common (up to 10% of children) and highly heritable (~70%) neurodevelopmental disorder. Behavioral and molecular genetic approaches are aimed towards dissecting its significant genetic component. In the proposed review, we will summarize advances in twin and molecular genetic research from the past 20 years. First, we will briefly outline the clinical and educational presentation and epidemiology of dyslexia. Next, we will summarize results from twin studies, followed by molecular genetic research (e.g., genome-wide association studies (GWASs)). In particular, we will highlight converging key insights from genetic research. (1) Dyslexia is a highly polygenic neurodevelopmental disorder with a complex genetic architecture. (2) Dyslexia categories share a large proportion of genetics with continuously distributed measures of reading skills, with shared genetic risks also seen across development. (3) Dyslexia genetic risks are shared with those implicated in many other neurodevelopmental disorders (e.g., developmental language disorder and dyscalculia). Finally, we will discuss the implications and future directions. As the diversity of genetic studies continues to increase through international collaborate efforts, we will highlight the challenges in advances of genetics discoveries in this field.

scholarly journals Integrating Phenotypic Data For Depression

2010 ◽  
Vol 7 (3) ◽  
pp. 290-299 ◽  
Author(s):  
Amy W. Butler ◽  
Sarah Cohen-Woods ◽  
Anne Farmer ◽  
Peter McGuffin ◽  
Cathryn M. Lewis
Keyword(s):  
Association Studies ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Data Sets ◽  
Full Potential ◽  
Genome Wide Association Studies ◽  
Sequencing Data ◽  
Phenotypic Data ◽  
Genome Wide ◽  
Meta Analyses

Abstract The golden era of molecular genetic research brings about an explosion of phenotypic, genotypic and sequencing data. Building on the common aims to exploit understanding of human diseases, it also opens up an opportunity for scientific communities to share and combine research data. Genome-wide association studies (GWAS) have been widely used to locate genetic variants, which are susceptible for common diseases. In the field of medical genetics, many international collaborative consortiums have been established to conduct meta-analyses of GWAS results and to combine large genotypic data sets to perform mega genetic analyses. Having an integrated phenotype database is significant for exploiting the full potential of extensive genotypic data. In this paper, we aim to share our experience gained from integrating four heterogeneous sets of major depression phenotypic data onto the MySQL platform. These data sets constitute clinical data which had been gathered for various genetic studies for the past decade. We also highlight in this report some generic data handling techniques, the costs and benefits regarding the use of integrated phenotype database within our own institution and under the consortium framework.

Genetics of Psychosis

2020 ◽  
Author(s):  
Matcheri Keshavan ◽  
William Stone ◽  
Ming Tsuang
Keyword(s):  
Brain Development ◽  
Immune Function ◽  
Large Scale ◽  
Psychotic Disorders ◽  
Association Studies ◽  
Genome Wide Association Studies ◽  
Adoption Studies ◽  
Synapse Plasticity ◽  
Genome Wide ◽  
Key Words Brain Development

Psychotic disorders such as schizophrenia are among the most disabling human illnesses. The causes of these illnesses have remained unknown, leading to much misunderstanding, stigmatization, and suffering. These illnesses are highly heritable, as evidenced by family association studies. Twin and adoption studies have pointed to the possibility of considerable environmental contributions to their causation. The identification of the chromosome locations and the specific genes is aided by linkage and association studies. Recent large-scale genome-wide association studies have pointed to a large number of genes that may together confer risk to this group of illnesses. These genes include those that have been previously implicated in the pathogenesis of psychotic disorders, such as glutamatergic neurotransmission, brain development and synapse plasticity, ion channels, and immune function. These genes may offer new ways to treat these serious illnesses, which are currently only treated with medications that target one system, namely dopamine. This review contains 6 figures, 9 tables, and 51 references. Key words: Brain development, complement, dopamine, familial, genome, glutamate, immune function, psychosis, schizophrenia

scholarly journals Increasing Sample Diversity in Psychiatric Genetics – Introducing a new Cohort of Patients with Schizophrenia and Controls from Vietnam – Results from a Pilot Study

2021 ◽  
Author(s):  
VT Nguyen ◽  
A Braun ◽  
J Kraft ◽  
TMT Ta ◽  
GM Panagiotaropoulou ◽  
...  
Keyword(s):  
Pilot Study ◽  
Data Collection ◽  
Predictive Power ◽  
Association Studies ◽  
East Asian ◽  
Genetic Research ◽  
European Ancestry ◽  
Risk Scores ◽  
Genome Wide Association Studies ◽  
Genome Wide

AbstractObjectivesGenome-Wide Association Studies (GWAS) of Schizophrenia (SCZ) have provided new biological insights; however, most cohorts are of European ancestry. As a result, derived polygenic risk scores (PRS) show decreased predictive power when applied to populations of different ancestries. We aimed to assess the feasibility of a large-scale data collection in Hanoi, Vietnam, contribute to international efforts to diversify ancestry in SCZ genetic research and examine the transferability of SCZ-PRS to individuals of Vietnamese Kinh ancestry.MethodsIn a pilot study, 368 individuals (including 190 SCZ cases) were recruited at the Hanoi Medical University’s associated psychiatric hospitals and outpatient facilities. Data collection included sociodemographic data, baseline clinical data, clinical interviews assessing symptom severity and genome-wide SNP genotyping. SCZ-PRS were generated using different training data sets: i) European, ii) East-Asian and iii) trans-ancestry GWAS summary statistics from the latest SCZ GWAS meta-analysis.ResultsSCZ-PRS significantly predicted case status in Vietnamese individuals using mixed-ancestry (R2 liability=4.9%, p=6.83*10−8), East-Asian (R2 liability=4.5%, p=2.73*10−7) and European (R2 liability=3.8%, p = 1.79*10−6) discovery samples.DiscussionOur results corroborate previous findings of reduced PRS predictive power across populations, highlighting the importance of ancestral diversity in GWA studies.

Behavior and Molecular Genetics of Personality Disorders

2012 ◽  
pp. 142-165
Author(s):  
Susan C. South ◽  
Ted Reichborn-Kjennerud ◽  
Nicholas R. Eaton ◽  
Robert F. Krueger
Keyword(s):  
Personality Disorder ◽  
Personality Disorders ◽  
Molecular Genetics ◽  
Behavior Genetics ◽  
Association Studies ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Twin Studies ◽  
Personality Pathology ◽  
Genome Wide Association Studies

The purpose of this chapter is to provide an overview of the behavior and molecular genetics of personality disorder. We begin with a thorough review of findings from the field of behavior genetics of personality pathology, including univariate twin studies, multivariate twin studies, and new models of gene–environment interplay. We then discuss the molecular genetics of personality pathology, including a consideration of candidate gene analysis, linkage analysis, and genome-wide association studies. We focus in particular on research concerning antisocial personality disorder (including antisociality and aggression), borderline personality disorder, schizotypal personality disorder, Cluster B and C personality disorders, and normal personality traits. We then provide a discussion of challenges and future directions with respect to behavior and molecular genetic research. We conclude the chapter with a discussion of the implications of this research for the forthcoming fifth edition of the American Psychiatric Association’s diagnostic manual.

Sociology, Genetics, and the Coming of Age of Sociogenomics

2020 ◽  
Vol 46 (1) ◽  
pp. 553-581 ◽  
Author(s):  
Melinda C. Mills ◽  
Felix C. Tropf
Keyword(s):  
Coming Of Age ◽  
Association Studies ◽  
Molecular Genetic ◽  
Genetic Correlations ◽  
Genetic Research ◽  
Well Being ◽  
Environment Interaction ◽  
Genome Wide Association Studies ◽  
Molecular Genetic Data ◽  
Polygenic Scores

Recent years have seen the birth of sociogenomics via the infusion of molecular genetic data. We chronicle the history of genetics, focusing particularly on post-2005 genome-wide association studies, the post-2015 big data era, and the emergence of polygenic scores. We argue that understanding polygenic scores, including their genetic correlations with each other, causation, and underlying biological architecture, is vital. We show how genetics can be introduced to understand a myriad of topics such as fertility, educational attainment, intergenerational social mobility, well-being, addiction, risky behavior, and longevity. Although models of gene-environment interaction and correlation mirror agency and structure models in sociology, genetics is yet to be fully discovered by this discipline. We conclude with a critical reflection on the lack of diversity, nonrepresentative samples, precision policy applications, ethics, and genetic determinism. We argue that sociogenomics can speak to long-standing sociological questions and that sociologists can offer innovative theoretical, measurement, and methodological innovations to genetic research.

scholarly journals Association of CNVs with methylation variation

2020 ◽  
Vol 5 (1) ◽  
Author(s):  
Xinghua Shi ◽  
Saranya Radhakrishnan ◽  
Jia Wen ◽  
Jin Yun Chen ◽  
Junjie Chen ◽  
...  
Keyword(s):  
Association Studies ◽  
Copy Number Variants ◽  
Cpg Methylation ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Cellular Phenotype ◽  
Genome Wide ◽  
A Genome ◽  
Physical Interactions ◽  
Trait Locus

Abstract Germline copy number variants (CNVs) and single-nucleotide polymorphisms (SNPs) form the basis of inter-individual genetic variation. Although the phenotypic effects of SNPs have been extensively investigated, the effects of CNVs is relatively less understood. To better characterize mechanisms by which CNVs affect cellular phenotype, we tested their association with variable CpG methylation in a genome-wide manner. Using paired CNV and methylation data from the 1000 genomes and HapMap projects, we identified genome-wide associations by methylation quantitative trait locus (mQTL) analysis. We found individual CNVs being associated with methylation of multiple CpGs and vice versa. CNV-associated methylation changes were correlated with gene expression. CNV-mQTLs were enriched for regulatory regions, transcription factor-binding sites (TFBSs), and were involved in long-range physical interactions with associated CpGs. Some CNV-mQTLs were associated with methylation of imprinted genes. Several CNV-mQTLs and/or associated genes were among those previously reported by genome-wide association studies (GWASs). We demonstrate that germline CNVs in the genome are associated with CpG methylation. Our findings suggest that structural variation together with methylation may affect cellular phenotype.

scholarly journals The Genetics of Alzheimer’s Disease in the Chinese Population

2020 ◽  
Vol 21 (7) ◽  
pp. 2381
Author(s):  
Chen-Ling Gan ◽  
Tao Zhang ◽  
Tae Ho Lee
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Late Onset ◽  
Association Studies ◽  
Genetic Research ◽  
Genome Wide Association Studies ◽  
Behavioral Impairment ◽  
Genome Wide ◽  
New Ideas ◽  
Genetic Mechanisms

Alzheimer’s disease (AD) is a neurodegenerative disease characterized by progressive cognitive dysfunction and behavioral impairment. In China, the number of AD patients is growing rapidly, which poses a considerable burden on society and families. In recent years, through the advancement of genome-wide association studies, second-generation gene sequencing technology, and their application in AD genetic research, more genetic loci associated with the risk for AD have been discovered, including KCNJ15, TREM2, and GCH1, which provides new ideas for the etiology and treatment of AD. This review summarizes three early-onset AD causative genes (APP, PSEN1, and PSEN2) and some late-onset AD susceptibility genes and their mutation sites newly discovered in China, and briefly introduces the potential mechanisms of these genetic susceptibilities in the pathogenesis of AD, which would help in understanding the genetic mechanisms underlying this devastating disease.

Polymorphisms Affecting Trace Element Bioavailability

2010 ◽  
Vol 80 (45) ◽  
pp. 314-318 ◽  
Author(s):  
John C. Mathers ◽  
Catherine Méplan ◽  
John E. Hesketh
Keyword(s):  
Trace Element ◽  
Individual Variation ◽  
Association Studies ◽  
Copy Number Variants ◽  
Micro Rna ◽  
Future Research ◽  
Genome Wide Association Studies ◽  
Complex Interactions ◽  
Genome Wide ◽  
Genes Encoding

This review outlines the nature of inter-individual variation in trace element bioavailability, focusing on genetic and epigenetic determinants. We note that pathogenic mutations responsible for dangerously high (or low) status for the micronutrient are unlikely to make large contributions to variability in bioavailability among the general population. Prospective genotyping (for variants in genes encoding selenoproteins) of participants in human studies illustrate one approach to understanding the complex interactions between genotype and trace element supply, which determine the functional bioavailability of selenium. Rapid advances in technological and bioinformatics tools; e. g., as used in Genome-Wide Association Studies, are opening new avenues for research on the genetic determinants of inter-individual variation in trace element bioavailability. This may include copy number variants in addition to the more widely studied polymorphisms. Future research on trace element bioavailability should encompass studies of epigenetic variants, including the role of non-coding (micro) RNA.

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