scholarly journals Nature and nurture in neuropsychiatric genetics: where do we stand?

2010 ◽  
Vol 12 (1) ◽  
pp. 7-23 ◽  
Keyword(s):  
Risk Factors ◽  
Genetic Epidemiology ◽  
Genetic Variants ◽  
Recent Progress ◽  
Molecular Genetic ◽  
Great Promise ◽  
Human Populations ◽  
Genetic Studies ◽  
Key Concepts ◽  
Nature And Nurture

Both genetic and nongenetic risk factors, as well as interactions and correlations between them, are thought to contribute to the etiology of psychiatric and behavioral phenotypes. Genetic epidemiology consistently supports the involvement of genes in liability. Molecular genetic studies have been less successful in identifying liability genes, but recent progress suggests that a number of specific genes contributing to risk have been identified. Collectively, the results are complex and inconsistent, with a single common DNA variant in any gene influencing risk across human populations. Few specific genetic variants influencing risk have been unambiguously identified, Contemporary approaches, however hold great promise to further elucidate liability genes and variants, as well as their potential inter-relationships with each other and with the environment. We will review the fields of genetic epidemiology and molecular genetics, providing examples from the literature to illustrate the key concepts emerging from this work.

Neurobiology of Attention Deficit/Hyperactivity Disorder

2013 ◽  
pp. 1034-1047 ◽  
Author(s):  
Stephen V. Faraone ◽  
Joseph Biederman
Keyword(s):  
Risk Factors ◽  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Molecular Genetic ◽  
Mechanisms Of Action ◽  
Genetic Studies ◽  
Hyperactivity Disorder ◽  
High Heritability ◽  
Adhd Medications ◽  
Very High

Attention deficit hyperactivity disorder (ADHD) is a prevalent, early onset and persistent, disorder of inattention, hyperactivity and impulsivity. The mechanisms of action of ADHD medications, neuroimaging studies and studies of monoamine systems and animal models suggest that dysregulation of catecholaminergic neurotransmission in cerebellar-corticostriatal circuits plays a key role in the pathophysiology of ADHD. The efficacy of ADHD medications likely arises from their differing profile of effects on a) dopaminergic and noradrenergic systems and b) the localization of these effects in prefrontal cortex and striatum ADHD has a very high heritability and although molecular genetic studies have found no causal common DNA variants yet, they have found strong evidence that rare duplications and deletions are risk factors for ADHD. Environmental risk factors, especially those that impact early neurodevelopment (i.e., exposure to cigarette smoking and alcohol during pregnancy), also influence susceptibility to ADHD.

scholarly journals Personalized Medicine in the Treatment of Atrial Fibrillation: Myth or Reality?

2019 ◽  
Vol 15 (1) ◽  
pp. 90-94
Author(s):  
V. I. Podzolkov ◽  
A. I. Tarzimanova
Keyword(s):  
Risk Factors ◽  
Atrial Fibrillation ◽  
Molecular Genetic ◽  
Modern Medicine ◽  
Therapeutic Drug ◽  
Genetic Studies ◽  
Genomic Studies ◽  
Familial Atrial Fibrillation ◽  
Life Threatening ◽  
Genetic Mechanisms

Due to the spectacular progress made in human genomic studies, molecular biology and genetics have become an essential part of modern medicine making it possible to early detect the risk factors and select the personalized treatment. The genetic studies have been widely used in the diagnosis and treatment of arrhythmias. Significant advances in the study of electrophysiological and genetic mechanisms of life-threatening arrhythmias have been achieved through studies of familial conditions with high risk of sudden cardiac death. However, the area of special interest for a practitioner is the identification of mutations associated with atrial fibrillation (AF). The novel methods enable us to study histological, structural, cellular and molecular causes of this arrhythmia. The two main directions of molecular genetic studies of AF are the identification of genetic mutations causing familial atrial fibrillation and the study of different genes polymorphism predisposing to arrhythmia in general population. Gene polymorphism screening helps both identify AF risk factors and predict its evolution from paroxysmal to chronic type. Emerging genetic studies provided explanation for the variable efficacy of antiarrhythmic drugs. It can be assumed that the clinical use of genetic methods will allow accurate and personalized selection of antiarrhythmics. Currently, therapeutic drug monitoring is widely recommended for a number of medications including cytostatics, aminoglycosides, anticonvulsants, and, by some researchers, antiarrhythmic and anticoagulant drugs. Medicine from the very beginning was intended to be personalized, but until recently it was a little more than a myth. The discovery of the human genome makes it possible to choose the most effective treatment with minimal adverse drug reactions for a particular patient.

scholarly journals Understanding the roles of genome and envirome: methods in genetic epidemiology

2001 ◽  
Vol 178 (S40) ◽  
pp. s12-s17 ◽  
Author(s):  
Jenae M. Neiderhiser
Keyword(s):  
Genetic Epidemiology ◽  
Early Stage ◽  
Molecular Genetic ◽  
Basic Knowledge ◽  
Careful Examination ◽  
Specific Gene ◽  
Environment Interaction ◽  
Genetic Studies ◽  
Genetic Techniques ◽  
Complex Relationships

BackgroundIn order to understand studies of psychiatric epidemiology focusing on the ‘genome’ and ‘envirome’, basic knowledge of the logic and methods is necessary.AimsTo provide a review of typical methods used in genetic epidemiology.MethodReviews of the research designs usually employed in quantitative and molecular genetic studies. Genotype-environment correlation and interaction are also discussed.ResultsQuantitative genetic studies indicate that genetic influences are important for both psychiatric disorders and behavioural traits. Specific gene loci can be tested for associations with both psychiatric risk and behavioural traits by means of molecular genetic techniques. There has been little examination of genotype-environment correlation and interaction, although the few reports that have appeared suggest that these complex relationships are important.ConclusionsAdvances in quantitative and molecular genetics now permit more careful examination of genotype-environment interaction and correlation. Studies combining molecular genetic strategies with measurement of the environment are still at an early stage, however, and their results must be awaited.

When Genetics Gets under Your Skin

1996 ◽  
Vol 1 (2) ◽  
pp. 97-100 ◽  
Author(s):  
Sherri J. Bale
Keyword(s):  
Risk Factors ◽  
Skin Diseases ◽  
Association Studies ◽  
Molecular Genetic ◽  
Underlying Mechanism ◽  
Statistical Techniques ◽  
Disease Genes ◽  
Genetic Studies ◽  
Genetic Techniques ◽  
Skin Biology

Background: Only recently has the advent of the use of modern statistical and molecular genetic techniques begun to increase our understanding of the study of dermatology and skin biology. Objective: This paper will briefly outline several statistical techniques that are used in genetic studies of skin disease by reviewing these techniques, the types of questions that can be answered using them, and issues that should be considered in evaluating and interpreting papers that use them. Methods: A discussion of association studies, segregation analyses, and linkage analyses with respect to skin diseases is presented. Results: Association studies can be used to identify both genetic and environmental risk factors for disease. Segregation analyses are used to identify the underlying mechanism for disease aggregation in families. Linkage analysis is used to map disease genes to chromosomes. Conclusion: Dermatologists should be familiar with the types of genetic questions that can be answered with each technique, and should remain aware of the limitations in interpretation.

scholarly journals Insights into attention-deficit/hyperactivity disorder from recent genetic studies

2021 ◽  
pp. 1-13
Author(s):  
Isabell Brikell ◽  
Christie Burton ◽  
Nina Roth Mota ◽  
Joanna Martin
Keyword(s):  
Risk Factors ◽  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Large Scale ◽  
Neurodevelopmental Disorder ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Genetic Studies ◽  
Hyperactivity Disorder ◽  
Genetic Risks

Abstract Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable neurodevelopmental disorder (NDD). In this narrative review, we summarize recent advances in quantitative and molecular genetic research from the past 5–10 years. Combined with large-scale international collaboration, these advances have resulted in fast-paced progress in understanding the etiology of ADHD and how genetic risk factors map on to clinical heterogeneity. Studies are converging on a number of key insights. First, ADHD is a highly polygenic NDD with a complex genetic architecture encompassing risk variants across the spectrum of allelic frequencies, which are implicated in neurobiological processes. Second, genetic studies strongly suggest that ADHD diagnosis shares a large proportion of genetic risks with continuously distributed traits of ADHD in the population, with shared genetic risks also seen across development and sex. Third, ADHD genetic risks are shared with those implicated in many other neurodevelopmental, psychiatric and somatic phenotypes. As sample sizes and the diversity of genetic studies continue to increase through international collaborative efforts, we anticipate further success with gene discovery, characterization of how the ADHD phenotype relates to other human traits and growing potential to use genomic risk factors for understanding clinical trajectories and for precision medicine approaches.

scholarly journals Are there anxious genes?

2002 ◽  
Vol 4 (3) ◽  
pp. 251-260
Keyword(s):  
Panic Disorder ◽  
Chromosomal Region ◽  
Association Studies ◽  
Molecular Genetic ◽  
Great Promise ◽  
Genetic Studies ◽  
Complex Disorders ◽  
Genome Wide ◽  
Genetic Technologies ◽  
Animal Models Of Anxiety

Anxiety comprises many clinical descriptions and phenotypes. A genetic predisposition to anxiety is undoubted; however, the nature and extent of that contribution is still unclear. Methods for the genetic analysis of such complex disorders is briefly reviewed, followed by a discussion of the comorbidity of anxiety with other psychiatric disorders and their possible common genetic etiology. Extensive genetic studies of the serotonin (5-hydroxytryptamine, 5-HT) transporter (5-HTT) gene have revealed how variation in gene expression can be correlated with anxiety phenotypes. Complete genome-wide linkage scans for panic disorder (PD) susceptibility genes have suggested a locus on chromosome arm 7p, and association studies have highlighted many candidate genes. A highly significant association between phobias, panic disorder, and a duplication at chromosomal region 15q24-26 is one of the most exciting findings to date. Emerging molecular genetic technologies and the use of increasingly sophisticated animal models of anxiety provide great promise for the future of the field.

Molecular genetic studies as an auxiliary method for determining risk factors in the clinical examination of the adult population

2018 ◽  
pp. 75-77
Author(s):  
E.Yu. Sizykh ◽  
N.A. Solovyova ◽  
M.A. Varlamova ◽  
A.T. Dyakonova ◽  
Kh.A. Kurtanov ◽  
...  
Keyword(s):  
Risk Factors ◽  
Clinical Examination ◽  
Adult Population ◽  
Molecular Genetic ◽  
Genetic Studies

scholarly journals Genetic and Risk factors in Dry-Form (Non-Neovascular) Age-Related Macular Degeneration

2017 ◽  
pp. 100-104
Keyword(s):  
Risk Factors ◽  
Environmental Factors ◽  
Macular Degeneration ◽  
Genetic Variants ◽  
Genetic Risk ◽  
Older Persons ◽  
Complex Disease ◽  
Age Related Macular Degeneration ◽  
Genetic Studies ◽  
Age Related

Age-related macular degeneration (AMD) is the leading cause of severe visual impairment in older persons. AMD is a multifactorial complex disease that both genetic and many environmental factors play roles in its etiopathogenesis. In recent years, advances in genetic studies have led to the detection of many genetic variants that play a role in the pathogenesis of AMD. This review summarized the environmental and genetic risk factors of AMD.

scholarly journals Molecular genetic markers of the risk of tension-type headache and migraine chronization development

2021 ◽  
pp. 147-154
Author(s):  
S. A. Kostiuk ◽  
O. S. Poluyan ◽  
M. V. Simirski ◽  
I. P. Marjenko
Keyword(s):  
Risk Factors ◽  
Molecular Genetic ◽  
Tension Headache ◽  
Tension Type Headache ◽  
Pcr Analysis ◽  
Genetic Studies ◽  
Polymorphic Variants ◽  
Preprotachykinin Gene ◽  
Type Headache

Objective: to identify the molecular genetic criteria of the risk of tension-type headache and migraine chronization development.Materials and methods. The detection of the results for the determination of allelic variants was carried out by means of horizontal electrophoresis using a molecular weight marker. The determination of the genotypes of the polymorphic variants of genes was carried out using high resolution melting PCR analysis.Results. Based on the performed molecular genetic studies, it has been established that the statistically significant (p < 0.05) risk factors of tension-type headache chronization are: the identification of the A-allele and AA-genotype of the DBH3 polymorphism of the dopamine-beta-hydroxylase gene DBH, as well as the identification of the G-allele and the GG-genotype of the Intron3SNP polymorphism of the preprotachykinin gene TAC1. It has been found that the statistically significant (p < 0.05) risk factors of migraine chronization are: the identification of the A-allele, GA- and AA-genotypes of the G29A polymorphism of the serotonin transporter gene SLC6A4, as well as the identification of the G-allele and the GG-genotype of the rs7793277 polymorphism of the preprotachykinin gene TAC1.Conclusion. The detection of these polymorphisms of the dopamine and preprotachykinin genes in the blood serum increases the risk of tension headache chronization by 1.395–1.991 times; the risk of migraine chronization by 1.235–1.395 times.

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