scholarly journals Heritability of Sleep and Its Disorders in Childhood and Adolescence

2021 ◽  
Author(s):  
Katie J. S. Lewis ◽  
Alice M. Gregory
Keyword(s):  
Sleep Problems ◽  
Association Studies ◽  
Full Range ◽  
Current Evidence ◽  
Future Research ◽  
Childhood And Adolescence ◽  
Genome Wide Association Studies ◽  
Genes And Environment ◽  
Wide Range ◽  
Heritability Estimates

Abstract Purpose of Review This review summarizes recent literature on the heritability of sleep and sleep disorders in childhood and adolescence. We also identify gaps in the literature and priorities for future research. Recent Findings Findings indicate that age, measurement method, reporter, and timing of sleep measurements can influence heritability estimates. Recent genome-wide association studies (GWAS) have identified differences in the heritability of sleep problems when ancestral differences are considered, but sample sizes are small compared to adult GWAS. Most studies focus on sleep variables in the full range rather than on disorder. Studies using objective measures of sleep typically comprised small samples. Summary Current evidence demonstrates a wide range of heritability estimates across sleep phenotypes in childhood and adolescence, but research in larger samples, particularly using objective sleep measures and GWAS, is needed. Further understanding of environmental mechanisms and the interaction between genes and environment is key for future research.

Modeling the Genetics of Social Cognition in the Laboratory

2014 ◽  
Author(s):  
Richard P. Ebstein ◽  
Songfa Zhong ◽  
Robin Chark ◽  
Poh San Lai ◽  
Soo Hong Chew
Keyword(s):  
Decision Making ◽  
Social Cognition ◽  
Association Studies ◽  
Twin Studies ◽  
Future Research ◽  
Genome Wide Association Studies ◽  
Behavioral Economic ◽  
Social Decision ◽  
Wide Range ◽  
Social Decision Making

This chapter examines recent advances in the genetics of social cognition, discussing evidence from twin studies that confirm the relevancy of genetic hard wiring in understanding many social phenotypes, with important implications for the social sciences and for genome-wide association studies (GWAS) that may identify specific genes contributing to a wide range of social phenotypes, genoeconomics, and individual and social decision making. Stressing the importance of phenotype definition and precise measurement as key to success in GWAS, the authors argue that laboratory-based behavioral economic paradigms using ethnically homogenous student populations generate the best prospects for successful GWAS. Also discussed are the neurochemical/neurogenetic architecture of behavioral economic games that measure individual and social decision making and the considerable progress made in unraveling the neurogenetics of human parenting and the beginning of a political attitudes neuroscience. The authors’ own GWAS is used to present a set of guidelines for future research directions.

Strong Association between Serotonin Transporter 5-HTTVNTR Variant and Psychoactive Substance (Nicotine) Use in the Turkish Cypriot Population

2020 ◽  
Vol 21 (6) ◽  
pp. 466-470
Author(s):  
Emine Kandemis ◽  
Gulten Tuncel ◽  
Ozen Asut ◽  
Sehime G. Temel ◽  
Mahmut C. Ergoren
Keyword(s):  
Serotonin Transporter ◽  
Association Studies ◽  
Strong Association ◽  
Smoking Behavior ◽  
Population Based ◽  
Genome Wide Association Studies ◽  
Genotype Distribution ◽  
Psychological Traits ◽  
Wide Range ◽  
Turkish Cypriot

Background: The use of psychoactive substances is one of the most dangerous social problems worldwide. Nicotine dependence results from the interaction between neurobiological, environmental and genetic factors. Serotonin is a neurotransmitter that has a wide range of central nervous system activities. The serotonin transporter gene has been previously linked to psychological traits. Objective: A variable number of tandem repeats within the serotonin transporter-linked polymorphic gene region are believed to alter the transcriptional efficiency of the 5-HTT gene. Therefore, we aimed to investigate the association between this polymorphic site and smoking behavior in the Turkish Cypriot population. Methods: A total of 259 (100 smokers, 100 non-smokers and 59 ex-smokers) Turkish Cypriots were included in this population-based cross-sectional study. Genomic DNA was extracted from peripheral blood samples and the 5-HTTVNTR2 polymorphisms were determined by the PCR-RFLP. Results: The allelic frequency and genotype distribution results of this study showed a strong association (P<0.0001) between smokers and non-smokers. No statistical significance was found between non-smokers and ex-smokers. Conclusion: This is the first genetic epidemiology study to investigate the allelic frequencies of 5-HTTVNTR2 polymorphisms associated with smoking behavior in the Turkish Cypriot population. Based on the results of this study, genome-wide association studies should be designed for preventive medicine in this population.

scholarly journals Systems genetics in diversity outbred mice inform BMD GWAS and identify determinants of bone strength

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Basel M. Al-Barghouthi ◽  
Larry D. Mesner ◽  
Gina M. Calabrese ◽  
Daniel Brooks ◽  
Steven M. Tommasini ◽  
...  
Keyword(s):  
Cortical Bone ◽  
Bone Strength ◽  
Human Genetics ◽  
Association Studies ◽  
Systems Genetics ◽  
Genome Wide Association Studies ◽  
Mineral Density ◽  
Diversity Outbred ◽  
Wide Range ◽  
Genetics Of Osteoporosis

AbstractGenome-wide association studies (GWASs) for osteoporotic traits have identified over 1000 associations; however, their impact has been limited by the difficulties of causal gene identification and a strict focus on bone mineral density (BMD). Here, we use Diversity Outbred (DO) mice to directly address these limitations by performing a systems genetics analysis of 55 complex skeletal phenotypes. We apply a network approach to cortical bone RNA-seq data to discover 66 genes likely to be causal for human BMD GWAS associations, including the genes SERTAD4 and GLT8D2. We also perform GWAS in the DO for a wide-range of bone traits and identify Qsox1 as a gene influencing cortical bone accrual and bone strength. In this work, we advance our understanding of the genetics of osteoporosis and highlight the ability of the mouse to inform human genetics.

scholarly journals Genetic Basis of Mastitis Resistance in Dairy Cattle – A Review / Podstawy Genetyczne Odporności Krów Mlecznych Na Zapalenie Wymienia – Artykuł Przeglądowy

2013 ◽  
Vol 13 (4) ◽  
pp. 663-673 ◽  
Author(s):  
Grażyna Sender ◽  
Agnieszka Korwin-Kossakowska ◽  
Adrianna Pawlik ◽  
Karima Galal Abdel Hameed ◽  
Jolanta Oprządek
Keyword(s):  
Dairy Cattle ◽  
Association Studies ◽  
Genetic Resistance ◽  
Clinical Mastitis ◽  
Future Research ◽  
Complex Nature ◽  
Candidate Gene Approach ◽  
Genome Wide Association Studies ◽  
Polygenic Control ◽  
Breeding Programmes

Abstract Mastitis is one of the most important mammary gland diseases impacting lactating animals. Resistance to this disease could be improved by breeding. There are several selection methods for mastitis resistance. To improve the natural genetic resistance of cows in succeeding generations, current breeding programmes use somatic cell count and clinical mastitis cases as resistance traits. However, these methods of selection have met with limited success. This is partly due to the complex nature of the disease. The limited progress in improving udder health by conventional selection procedures requires applying information on molecular markers of mastitis susceptibility in marker-assisted selection schemes. Mastitis is under polygenic control, so there are many genes that control this trait in many loci. This review briefly describes genome-wide association studies which have been carried out to identify quantitative trait loci associated with mastitis resistance in dairy cattle worldwide. It also characterizes the candidate gene approach focus on identifying genes that are strong candidates for the mastitis resistance trait. In the conclusion of the paper we focus our attention on future research which should be conducted in the field of the resistance to mastitis.

scholarly journals Host Genetics and Gut Microbiome: Perspectives for Multiple Sclerosis

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1181
Author(s):  
Alessandro Maglione ◽  
Miriam Zuccalà ◽  
Martina Tosi ◽  
Marinella Clerico ◽  
Simona Rolla
Keyword(s):  
Multiple Sclerosis ◽  
Environmental Factors ◽  
Lupus Erythematosus ◽  
Gut Microbiome ◽  
Complex Disease ◽  
Current Knowledge ◽  
Association Studies ◽  
Future Research ◽  
Genome Wide Association Studies ◽  
Host Genetics

As a complex disease, Multiple Sclerosis (MS)’s etiology is determined by both genetic and environmental factors. In the last decade, the gut microbiome has emerged as an important environmental factor, but its interaction with host genetics is still unknown. In this review, we focus on these dual aspects of MS pathogenesis: we describe the current knowledge on genetic factors related to MS, based on genome-wide association studies, and then illustrate the interactions between the immune system, gut microbiome and central nervous system in MS, summarizing the evidence available from Experimental Autoimmune Encephalomyelitis mouse models and studies in patients. Finally, as the understanding of influence of host genetics on the gut microbiome composition in MS is in its infancy, we explore this issue based on the evidence currently available from other autoimmune diseases that share with MS the interplay of genetic with environmental factors (Inflammatory Bowel Disease, Rheumatoid Arthritis and Systemic Lupus Erythematosus), and discuss avenues for future research.

scholarly journals Four Loci Are Associated with Cardiorespiratory Fitness and Endurance Performance in Young Chinese Females

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ying Zhao ◽  
Guoyuan Huang ◽  
Zuosong Chen ◽  
Xiang Fan ◽  
Tao Huang ◽  
...  
Keyword(s):  
Cardiorespiratory Fitness ◽  
Association Studies ◽  
Endurance Performance ◽  
Young Female ◽  
Future Research ◽  
Genome Wide Association Studies ◽  
Genetic Trait ◽  
Young Females ◽  
Genome Wide ◽  
Fixed Model

AbstractCardiorespiratory fitness (CRF) and endurance performance are characterized by a complex genetic trait with high heritability. Although research has identified many physiological and environmental correlates with CRF, the genetic architecture contributing to CRF remains unclear, especially in non-athlete population. A total of 762 Chinese young female participants were recruited and an endurance run test was used to determine CRF. We used a fixed model of genome-wide association studies (GWAS) for CRF. Genotyping was performed using the Affymetrix Axiom and illumina 1 M arrays. After quality control and imputation, a linear regression-based association analysis was conducted using a total of 5,149,327 variants. Four loci associated with CRF were identified to reach genome-wide significance (P < 5.0 × 10-8), which located in 15q21.3 (rs17240160, P = 1.73 × 10-9, GCOM1), 3q25.31 (rs819865, P = 8.56 × 10-9, GMPS), 21q22.3 (rs117828698, P = 9.59 × 10-9, COL18A1), and 17q24.2 (rs79806428, P = 3.85 × 10-8, PRKCA). These loci (GCOM1, GMPS, COL18A1 and PRKCA) associated with cardiorespiratory fitness and endurance performance in Chinese non-athlete young females. Our results suggest that these gene polymorphisms provide further genetic evidence for the polygenetic nature of cardiorespiratory endurance and be used as genetic biomarkers for future research.

scholarly journals Using Genetics to Examine a General Liability to Childhood Psychopathology

2019 ◽  
Vol 50 (4) ◽  
pp. 213-220 ◽  
Author(s):  
Lucy Riglin ◽  
Ajay K. Thapar ◽  
Beate Leppert ◽  
Joanna Martin ◽  
Alexander Richards ◽  
...  
Keyword(s):  
Association Studies ◽  
Full Range ◽  
Population Based ◽  
Autism Spectrum ◽  
Developmental Changes ◽  
Risk Scores ◽  
Genome Wide Association Studies ◽  
Childhood Psychopathology ◽  
Specific Factors ◽  
P Factor

AbstractPsychiatric disorders show phenotypic as well as genetic overlaps. There are however also marked developmental changes throughout childhood. We investigated the extent to which, for a full range of early childhood psychopathology, a general “p” factor was explained by genetic liability, as indexed by multiple different psychiatric polygenic risk scores (PRS) and whether these relationships altered with age. The sample was a UK, prospective, population-based cohort with psychopathology data at age 7 (N = 8161) and age 13 (N = 7017). PRS were generated from large published genome-wide association studies. At both ages, we found evidence for a childhood “p” factor as well as for specific factors. Schizophrenia and attention-deficit/hyperactivity disorder (ADHD) PRS were associated with this general “p” factor at both ages but depression and autism spectrum disorder (ASD) PRS were not. We also found some evidence of associations between schizophrenia, ADHD and depression PRS with specific factors, but these were less robust and there was evidence for developmental changes.

SatNav or SatNag?

2011 ◽  
pp. 314-322
Author(s):  
G. E. Burnett
Keyword(s):  
Full Range ◽  
Future Research ◽  
Vehicle Navigation ◽  
Navigation Systems ◽  
Computing Systems ◽  
Positive Direction ◽  
Driving Experience ◽  
Wide Range ◽  
Driving Task

A wide range of in-car computing systems are either already in existence or under development which aim to improve the safety, efficiency and the comfort/pleasure of the driving experience. Several unique forces act on the design process for this technology which must be understood by HCI researchers. In particular, this is an area in which safety concerns dominate perspectives. In this position paper, I have used a case study system (vehicle navigation) to illustrate the evolution of some key HCI design issues that have arisen in the last twenty years as this in-car technology has matured. Fundamentally, I argue that, whilst HCI research has had an influence on current designs for vehicle navigation systems, this has not always been in a wholly positive direction. Future research must take a holistic viewpoint and consider the full range of impacts that in-car computing systems can have on the driving task.

scholarly journals Qtlizer: comprehensive QTL annotation of GWAS results

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Matthias Munz ◽  
Inken Wohlers ◽  
Eric Simon ◽  
Tobias Reinberger ◽  
Hauke Busch ◽  
...  
Keyword(s):  
Association Studies ◽  
Housekeeping Genes ◽  
R Package ◽  
Genome Wide Association Studies ◽  
Protein Abundance ◽  
Base Pairs ◽  
Link Type ◽  
Genome Wide ◽  
Wide Range ◽  
Distance Limit

AbstractExploration of genetic variant-to-gene relationships by quantitative trait loci such as expression QTLs is a frequently used tool in genome-wide association studies. However, the wide range of public QTL databases and the lack of batch annotation features complicate a comprehensive annotation of GWAS results. In this work, we introduce the tool “Qtlizer” for annotating lists of variants in human with associated changes in gene expression and protein abundance using an integrated database of published QTLs. Features include incorporation of variants in linkage disequilibrium and reverse search by gene names. Analyzing the database for base pair distances between best significant eQTLs and their affected genes suggests that the commonly used cis-distance limit of 1,000,000 base pairs might be too restrictive, implicating a substantial amount of wrongly and yet undetected eQTLs. We also ranked genes with respect to the maximum number of tissue-specific eQTL studies in which a most significant eQTL signal was consistent. For the top 100 genes we observed the strongest enrichment with housekeeping genes (P = 2 × 10–6) and with the 10% highest expressed genes (P = 0.005) after grouping eQTLs by r2 > 0.95, underlining the relevance of LD information in eQTL analyses. Qtlizer can be accessed via https://genehopper.de/qtlizer or by using the respective Bioconductor R-package (https://doi.org/10.18129/B9.bioc.Qtlizer).

Genome-Wide Association Study of Inattention and Hyperactivity–Impulsivity Measured as Quantitative Traits

2013 ◽  
Vol 16 (2) ◽  
pp. 560-574 ◽  
Author(s):  
Jane L. Ebejer ◽  
David L. Duffy ◽  
Julius van der Werf ◽  
Margaret J. Wright ◽  
Grant Montgomery ◽  
...  
Keyword(s):  
Genome Wide Association Study ◽  
Association Studies ◽  
Full Range ◽  
Strong Association ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Community Based ◽  
Normal Behaviour ◽  
Genome Wide ◽  
Inattention And Hyperactivity

Genome-wide association studies (GWAS) of attention-deficit/hyperactivity disorder (ADHD) offer the benefit of a hypothesis-free approach to measuring the quantitative effect of genetic variants on affection status. Generally the findings of GWAS relying on ADHD status have been non-significant, but the one study using quantitative measures of symptoms found SLC9A9 and SLC6A1 were associated with inattention and hyperactivity–impulsivity. Accordingly, we performed a GWAS using quantitative measures of each ADHD subtype measured with the Strengths and Weaknesses of ADHD and Normal Behaviour (SWAN) scale in two community-based samples. This scale captures the full range of attention and kinetic behavior; from high levels of attention and appropriate activity to the inattention and hyperactivity–impulsivity associated with ADHD within two community-based samples. Our discovery sample comprised 1,851 participants (mean age = 22.8 years [4.8]; 50.6% female), while our replication sample comprised 155 participants (mean age = 26.3 years [3.1]; 68.4% females). Age, sex, age × sex, and age2 were included as covariates and the results from each sample were combined using meta-analysis, then analyzed with a gene-based test to estimate the combined effect of markers within genes. We compare our results with markers that have previously been found to have a strong association with ADHD symptoms. Neither the GWAS nor subsequent meta-analyses yielded genome-wide significant results; the strongest effect was observed at rs2110267 (4.62 × 10−7) for symptoms of hyperactivity–impulsivity. The strongest effect in the gene-based test was for GPR139 on symptoms of inattention (6.40 × 10−5). Replication of this study with larger samples will add to our understanding of the genetic etiology of ADHD.

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