scholarly journals Genome-wide association analysis of excessive daytime sleepiness identifies 42 loci that suggest phenotypic subgroups

2018 ◽  
Author(s):  
Heming Wang ◽  
Jacqueline M Lane ◽  
Samuel E Jones ◽  
Hassan S Dashti ◽  
Hanna Ollila ◽  
...  
Keyword(s):  
Excessive Daytime Sleepiness ◽  
Daytime Sleepiness ◽  
Genetic Risk Score ◽  
Genetic Correlations ◽  
Functional Deficits ◽  
Genome Wide ◽  
Reproductive Ageing ◽  
Aggregate Effect ◽  
The Uk ◽  
Transmission Pathways

AbstractExcessive daytime sleepiness (EDS) affects 10-20% of the population and is associated with substantial functional deficits. We identified 42 loci for self-reported EDS in GWAS of 452,071 individuals from the UK Biobank, with enrichment for genes expressed in brain tissues and in neuronal transmission pathways. We confirmed the aggregate effect of a genetic risk score of 42 SNPs on EDS in independent Scandinavian cohorts and on other sleep disorders (restless leg syndrome, insomnia) and sleep traits (duration, chronotype, accelerometer-derived sleep efficiency and daytime naps or inactivity). Strong genetic correlations were also seen with obesity, coronary heart disease, psychiatric diseases, cognitive traits and reproductive ageing. EDS variants clustered into two predominant composite phenotypes - sleep propensity and sleep fragmentation - with the former showing stronger evidence for enriched expression in central nervous system tissues, suggesting two unique mechanistic pathways. Mendelian randomization analysis indicated that higher BMI is causally associated with EDS risk, but EDS does not appear to causally influence BMI.

scholarly journals The transferability of lipid loci across African, Asian and European cohorts

2019 ◽  
Vol 10 (1) ◽  
Author(s):  
Karoline Kuchenbaecker ◽  
◽  
Nikita Telkar ◽  
Theresa Reiker ◽  
Robin G. Walters ◽  
...  
Keyword(s):  
Association Studies ◽  
Genetic Risk Score ◽  
Genetic Correlations ◽  
Serum Levels ◽  
European Ancestry ◽  
Genome Wide Association Studies ◽  
Genetic Determinants ◽  
Gene Environment ◽  
Genome Wide ◽  
The Uk

Abstract Most genome-wide association studies are based on samples of European descent. We assess whether the genetic determinants of blood lipids, a major cardiovascular risk factor, are shared across populations. Genetic correlations for lipids between European-ancestry and Asian cohorts are not significantly different from 1. A genetic risk score based on LDL-cholesterol-associated loci has consistent effects on serum levels in samples from the UK, Uganda and Greece (r = 0.23–0.28, p < 1.9 × 10−14). Overall, there is evidence of reproducibility for ~75% of the major lipid loci from European discovery studies, except triglyceride loci in the Ugandan samples (10% of loci). Individual transferable loci are identified using trans-ethnic colocalization. Ten of fourteen loci not transferable to the Ugandan population have pleiotropic associations with BMI in Europeans; none of the transferable loci do. The non-transferable loci might affect lipids by modifying food intake in environments rich in certain nutrients, which suggests a potential role for gene-environment interactions.

scholarly journals Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits

2016 ◽  
Author(s):  
Jacqueline M. Lane ◽  
Jingjing Liang ◽  
Irma Vlasac ◽  
Simon G. Anderson ◽  
David A. Bechtold ◽  
...  
Keyword(s):  
Sleep Duration ◽  
Excessive Daytime Sleepiness ◽  
Daytime Sleepiness ◽  
Sleep Disturbances ◽  
Metabolic Diseases ◽  
Genome Wide Association ◽  
Association Analyses ◽  
Genome Wide ◽  
The Uk ◽  
Insomnia Symptoms

Chronic sleep disturbances, associated with cardio-metabolic diseases, psychiatric disorders and all-cause mortality1,2, affect 25–30% of adults worldwide3. While environmental factors contribute importantly to self-reported habitual sleep duration and disruption, these traits are heritable4–9, and gene identification should improve our understanding of sleep function, mechanisms linking sleep to disease, and development of novel therapies. We report single and multi-trait genome-wide association analyses (GWAS) of self-reported sleep duration, insomnia symptoms including difficulty initiating and/or maintaining sleep, and excessive daytime sleepiness in the UK Biobank (n=112,586), with discovery of loci for insomnia symptoms (near MEIS1, TMEM132E, CYCL1, TGFBI in females and WDR27 in males), excessive daytime sleepiness (near AR/OPHN1) and a composite sleep trait (near INADL and HCRTR2), as well as replication of a locus for sleep duration (at PAX-8). Genetic correlation was observed between longer sleep duration and schizophrenia (rG=0.29, p=1.90x10−13) and between increased excessive daytime sleepiness and increased adiposity traits (BMI rG=0.20, p=3.12x10−09; waist circumference rG=0.20, p=2.12x10−07).

Sleep and epilepsy—chicken or egg?

2018 ◽  
Author(s):  
Dora A. Lozsadi
Keyword(s):  
Side Effects ◽  
Sleep Disorders ◽  
Learning Disability ◽  
Excessive Daytime Sleepiness ◽  
Daytime Sleepiness ◽  
Seizure Control ◽  
Subjective Sleep ◽  
Neurological Conditions ◽  
The Uk ◽  
Patients With Epilepsy

Epilepsy is the commonest serious chronic neurological condition, affecting 0.5% of the population in the UK. Subjective sleep disturbance and excessive daytime sleepiness are reported to be 50% more frequent in those with epilepsy than in controls. Causes are multiple. Both poor seizure control and nocturnal attacks are known to contribute to such sleep disorders. Epilepsy also increases the risk of associated sleep disorders, and additional neurological conditions, such as dementia, learning disability, and depression. These all affect sleep hygiene. Prescribed anti-epileptic drugs will further aggravate the problem. Side-effects will include drowsiness. Sedating benzodiazepines and barbiturates are considered worst offenders. Others affect sleep architecture to varying degrees and/or cause insomnia. While hyper-somnolence in patients with epilepsy will raise the possibility of any of the above issues, sleep deprivation is one of the commonest seizure triggers. This chapter will shed more light on the intricate relationship between sleep and epilepsy.

scholarly journals Genome-wide analysis of self-reported risk-taking behaviour and cross-disorder genetic correlations in the UK Biobank cohort

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Rona J. Strawbridge ◽  
Joey Ward ◽  
Breda Cullen ◽  
Elizabeth M. Tunbridge ◽  
Sarah Hartz ◽  
...  
Keyword(s):  
Risk Taking ◽  
Genetic Correlations ◽  
Uk Biobank ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
The Uk

GENOME-WIDE ANALYSIS OF RISK-TAKING BEHAVIOUR IN 116 255 INDIVIDUALS FROM THE UK BIOBANK COHORT AND CROSS-DISORDER GENETIC CORRELATIONS

2019 ◽  
Vol 29 ◽  
pp. S981-S982
Author(s):  
Rona Strawbridge ◽  
Joey Ward ◽  
Breda Cullen ◽  
Elizabeth Tunbridge ◽  
Sarah Hartz ◽  
...  
Keyword(s):  
Risk Taking ◽  
Genetic Correlations ◽  
Uk Biobank ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
The Uk

scholarly journals Genome-wide analyses of behavioural traits are subject to bias by misreports and longitudinal changes

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Angli Xue ◽  
Longda Jiang ◽  
Zhihong Zhu ◽  
Naomi R. Wray ◽  
Peter M. Visscher ◽  
...  
Keyword(s):  
Alcohol Consumption ◽  
Association Studies ◽  
Genetic Correlations ◽  
Genome Wide Association Studies ◽  
Uk Biobank ◽  
Longitudinal Changes ◽  
Genome Wide ◽  
The Uk ◽  
Almost All ◽  
Cardiovascular Traits

AbstractGenome-wide association studies (GWAS) have discovered numerous genetic variants associated with human behavioural traits. However, behavioural traits are subject to misreports and longitudinal changes (MLC) which can cause biases in GWAS and follow-up analyses. Here, we demonstrate that individuals with higher disease burden in the UK Biobank (n = 455,607) are more likely to misreport or reduce their alcohol consumption levels, and propose a correction procedure to mitigate the MLC-induced biases. The alcohol consumption GWAS signals removed by the MLC corrections are enriched in metabolic/cardiovascular traits. Almost all the previously reported negative estimates of genetic correlations between alcohol consumption and common diseases become positive/non-significant after the MLC corrections. We also observe MLC biases for smoking and physical activities in the UK Biobank. Our findings provide a plausible explanation of the controversy about the effects of alcohol consumption on health outcomes and a caution for future analyses of self-reported behavioural traits in biobank data.

scholarly journals Associations of sleep and circadian phenotypes with COVID-19 susceptibility and hospitalization: an observational cohort study based on the UK Biobank and a two-sample Mendelian randomization study

SLEEP ◽  
2022 ◽  
Author(s):  
Zheran Liu ◽  
Yaxin Luo ◽  
Yonglin Su ◽  
Zhigong Wei ◽  
Ruidan Li ◽  
...  
Keyword(s):  
Cohort Study ◽  
Excessive Daytime Sleepiness ◽  
Daytime Sleepiness ◽  
Mendelian Randomization ◽  
Causal Link ◽  
Uk Biobank ◽  
Inverse Variance ◽  
Increased Risk ◽  
Weighted Median ◽  
The Uk

Abstract Study Objectives Sleep and circadian phenotypes are associated with several diseases. The present study aimed to investigate whether sleep and circadian phenotypes were causally linked with coronavirus disease 2019 (COVID-19)-related outcomes. Methods Habitual sleep duration, insomnia, excessive daytime sleepiness, daytime napping, and chronotype were selected as exposures. Key outcomes included positivity and hospitalization for COVID-19. In the observation cohort study, multivariable risk ratios (RRs) and their 95% confidence intervals (CIs) were calculated. Two-sample Mendelian randomization (MR) analyses were conducted to estimate the causal effects of the significant findings in the observation analyses. Beta values and the corresponding 95% CIs were calculated and compared using the inverse variance weighting, weighted median, and MR-Egger methods. Results In the UK Biobank cohort study, both often excessive daytime sleepiness and sometimes daytime napping were associated with hospitalized COVID-19 (excessive daytime sleepiness [often vs. never]: RR=1.24, 95% CI=1.02-1.5; daytime napping [sometimes vs. never]: RR=1.12, 95% CI=1.02-1.22). In addition, sometimes daytime napping was also associated with an increased risk of COVID-19 susceptibility (sometimes vs. never: RR= 1.04, 95% CI=1.01-1.28). In the MR analyses, excessive daytime sleepiness was found to increase the risk of hospitalized COVID-19 (MR IVW method: OR = 4.53, 95% CI = 1.04-19.82), whereas little evidence supported a causal link between daytime napping and COVID-19 outcomes. Conclusions Observational and genetic evidence supports a potential causal link between excessive daytime sleepiness and an increased risk of COVID-19 hospitalization, suggesting that interventions targeting excessive daytime sleepiness symptoms might decrease severe COVID-19 rate.

Hypnagogic and Hypnopompic Hallucinations: Pathological Phenomena?

1996 ◽  
Vol 169 (4) ◽  
pp. 459-467 ◽  
Author(s):  
Maurice M. Ohayon ◽  
Robert G. Priest ◽  
Malijaï Caulet ◽  
Christian Guilleminault
Keyword(s):  
General Population ◽  
Mental Disorders ◽  
Excessive Daytime Sleepiness ◽  
Daytime Sleepiness ◽  
Community Sample ◽  
Interview Process ◽  
The Uk ◽  
Hypnagogic Hallucinations

BackgroundHypnagogic and hypnopompic hallucinations are common in narcolepsy. However, the prevalence of these phenomena in the general population is uncertain.MethodA representative community sample of 4972 people in the UK, aged 15–100, was interviewed by telephone (79.6% of those contacted). Interviews were performed by lay interviewers using a computerised system that guided the interviewer through the interview process.ResultsThirty-seven per cent of the sample reported experiencing hypnagogic hallucinations and 12.5% reported hypnopompic hallucinations. Both types of hallucinations were significantly more common among subjects with symptoms of insomnia, excessive daytime sleepiness or mental disorders. According to this study, the prevalence of narcolepsy in the UK is 0.04%.ConclusionsHypnagogic and hypnopompic hallucinations were much more common than expected, with a prevalence that far exceeds that which can be explained by the association with narcolepsy. Hypnopompic hallucinations may be a better indicator of narcolepsy than hypnagogic hallucinations in subjects reporting excessive daytime sleepiness.

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