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.

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.

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.

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 Genetics and Education: Recent Developments in the Context of an Ugly History and an Uncertain Future

AERA Open ◽  
2019 ◽  
Vol 5 (1) ◽  
pp. 233285841881051 ◽  
Author(s):  
Daphne Martschenko ◽  
Sam Trejo ◽  
Benjamin W. Domingue
Keyword(s):  
Education Research ◽  
Association Studies ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Genetic Data ◽  
Genome Wide Association Studies ◽  
Biomedical Sciences ◽  
Genetics Research ◽  
Recent Developments ◽  
Research And Education

Driven by our recent mapping of the human genome, genetics research is increasingly prominent and beginning to reintersect with education research. We describe previous intersections of these fields, focusing on the ways that they were harmful. We then discuss novel features of genetics research in the current era, with an emphasis on possibilities deriving from the availability of molecular genetic data and the proliferation of genome-wide association studies. We discuss both the promises and potential pitfalls resulting from the convergence of molecular genetic research and education research. The floodgates of genetic data have opened. Collaboration between those in the social and biomedical sciences; open conversation among policy makers, educators, and researchers; and public engagement will all prove critical for enacting regulations and research designs that emphasize equity.

scholarly journals Genetics and Education: Recent developments in the context of an ugly history and an uncertain future

2018 ◽  
Author(s):  
Daphne Martschenko ◽  
Sam Trejo ◽  
Benjamin Domingue
Keyword(s):  
Education Research ◽  
Association Studies ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Genetic Data ◽  
Genome Wide Association Studies ◽  
Genetics Research ◽  
Recent Developments ◽  
Uncertain Future ◽  
Research And Education

Driven by our recent mapping of the human genome, genetics research is increasingly prominent and beginning to re-intersect with education research. We describe previous intersections of these fields, focusing specifically on the ways they were harmful. We then discuss novel features of genetics research in the current era with an emphasis on possibilities deriving from the availability of molecular genetic data and the proliferation of genome-wide association studies. We discuss both promises and potential pitfalls resulting from the convergence of molecular genetic research and education research. The floodgates of genetic data have opened. Collaboration between those in the social and hard sciences; open conversation among policy makers, educators, and researchers; and public engagement will all prove critical for enacting regulations and research designs that emphasize equity.

scholarly journals Assessing the evidence for shared genetic risks across psychiatric disorders and traits

2017 ◽  
Vol 48 (11) ◽  
pp. 1759-1774 ◽  
Author(s):  
Joanna Martin ◽  
Mark J. Taylor ◽  
Paul Lichtenstein
Keyword(s):  
Psychiatric Disorders ◽  
Genetic Architecture ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Twin Studies ◽  
Future Research ◽  
Psychiatric Genetic ◽  
Genome Wide ◽  
Clinical Disorders ◽  
Genetic Risks

AbstractGenetic influences play a significant role in risk for psychiatric disorders, prompting numerous endeavors to further understand their underlying genetic architecture. In this paper, we summarize and review evidence from traditional twin studies and more recent genome-wide molecular genetic analyses regarding two important issues that have proven particularly informative for psychiatric genetic research. First, emerging results are beginning to suggest that genetic risk factors for some (but not all) clinically diagnosed psychiatric disorders or extreme manifestations of psychiatric traits in the population share genetic risks with quantitative variation in milder traits of the same disorder throughout the general population. Second, there is now evidence for substantial sharing of genetic risks across different psychiatric disorders. This extends to the level of characteristic traits throughout the population, with which some clinical disorders also share genetic risks. In this review, we summarize and evaluate the evidence for these two issues, for a range of psychiatric disorders. We then critically appraise putative interpretations regarding the potential meaning of genetic correlation across psychiatric phenotypes. We highlight several new methods and studies which are already using these insights into the genetic architecture of psychiatric disorders to gain additional understanding regarding the underlying biology of these disorders. We conclude by outlining opportunities for future research in this area.

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.

4. What are the contributions of environments and genes to intelligence differences?

2020 ◽  
pp. 50-69
Author(s):  
Ian J. Deary
Keyword(s):  
Association Studies ◽  
Twin Studies ◽  
Identical Twins ◽  
New Method ◽  
Genome Wide Association ◽  
Shared Environment ◽  
Genome Wide Association Studies ◽  
Genetic Inheritance ◽  
Genome Wide ◽  
Shared Environments

‘What are the contributions of environments and genes to intelligence differences?’ asks whether genetic inheritance and the environments people experience affect intelligence differences. Researchers use two main resources to answer this question: twins and samples of DNA. Studies of identical and non-identical twins are used to show the contributions of genes, shared environment, and non-shared environment to people’s differences in traits. Twin studies tell us that by adulthood, about two-thirds of intelligence differences are caused by how people vary in their genetic inheritance, and that both shared and non-shared environments make significant contributions to intelligence differences. The introduction of genome-wide association studies in 2011 has provided a new method of estimating the heritability of intelligence.

scholarly journals Genetics of Atrial Fibrillation in 2020

2020 ◽  
Vol 127 (1) ◽  
pp. 21-33 ◽  
Author(s):  
Carolina Roselli ◽  
Michiel Rienstra ◽  
Patrick T. Ellinor
Keyword(s):  
Atrial Fibrillation ◽  
Complex Disease ◽  
Association Studies ◽  
Heart Rhythm ◽  
Genome Wide Association Studies ◽  
Future Directions ◽  
Genetics Research ◽  
Genome Wide ◽  
Increased Risk ◽  
Rhythm Disorder

Atrial fibrillation is a common heart rhythm disorder that leads to an increased risk for stroke and heart failure. Atrial fibrillation is a complex disease with both environmental and genetic risk factors that contribute to the arrhythmia. Over the last decade, rapid progress has been made in identifying the genetic basis for this common condition. In this review, we provide an overview of the primary types of genetic analyses performed for atrial fibrillation, including linkage studies, genome-wide association studies, and studies of rare coding variation. With these results in mind, we aim to highlighting the existing knowledge gaps and future directions for atrial fibrillation genetics research.

The genetics of axial spondyloarthritis

2016 ◽  
Author(s):  
Stefan Siebert ◽  
Sengupta Raj ◽  
Alexander Tsoukas
Keyword(s):  
Axial Spondyloarthritis ◽  
Association Studies ◽  
Single Gene ◽  
Twin Studies ◽  
Genome Wide Association Studies ◽  
Functional Importance ◽  
Unfolded Protein ◽  
Genome Wide ◽  
Arthritogenic Peptide ◽  
Protein Response

Family and twin studies have long suggested a large genetic component in ankylosing spondylitis (AS). The genetic association with HLA-B27 remains one of the strongest single gene variant associations reported in any complex polygenic disease. The exact mechanism by which HLA-B27 contributes to AS remains unknown, with three main theories proposed: the arthritogenic peptide, endoplasmic reticulum stress with unfolded protein response, and homodimerization theories. Genome-wide association studies have identified a number of other important susceptibility genes for AS, several of which overlap with other spondyloarthritis conditions. Of these, ERAP1 and IL-23R, are covered in more detail, highlighting their functional importance.

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