Genome-wide association studies and cross-population meta-analyses investigating short and long sleep duration.
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ABSTRACT:
SUBMITTER: Austin-Zimmerman I
PROVIDER: S-EPMC10539313 | biostudies-literature | 2023 Sep
REPOSITORIES: biostudies-literature
Publications
Genome-wide association studies and cross-population meta-analyses investigating short and long sleep duration.
Austin-Zimmerman Isabelle I Levey Daniel F DF Giannakopoulou Olga O Deak Joseph D JD Galimberti Marco M Adhikari Keyrun K Zhou Hang H Denaxas Spiros S Irizar Haritz H Kuchenbaecker Karoline K McQuillin Andrew A Concato John J Buysse Daniel J DJ Gaziano J Michael JM Gottlieb Daniel J DJ Polimanti Renato R Stein Murray B MB Bramon Elvira E Gelernter Joel J
Nature communications 20230928 1
Sleep duration has been linked to a wide range of negative health outcomes and to reduced life expectancy. We present genome-wide association studies of short ( ≤ 5 h) and long ( ≥ 10 h) sleep duration in adults of European (N = 445,966), African (N = 27,785), East Asian (N = 3141), and admixed-American (N = 16,250) ancestry from UK Biobank and the Million Veteran Programme. In a cross-population meta-analysis, we identify 84 independent loci for short sleep and 1 for long sleep. We estimate SNP ...[more]
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Project description:BackgroundStudies have found sleeping behaviors, such as sleep duration, to be associated with kidney function and cardiovascular disease risk. However, whether short or long sleep duration is a causative factor for kidney function impairment has been rarely studied.MethodsWe studied data from participants aged 40-69 years in the UK Biobank prospective cohort, including 25,605 self-reporting short-duration sleep (<6 hours per 24 hours), 404,550 reporting intermediate-duration sleep (6-8 hours), and 35,659 reporting long-duration sleep (≥9 hours) in the clinical analysis. Using logistic regression analysis, we investigated the observational association between the sleep duration group and prevalent CKD stages 3-5, analyzed by logistic regression analysis. We performed Mendelian randomization (MR) analysis involving 321,260 White British individuals using genetic instruments (genetic variants linked with short- or long-duration sleep behavior as instrumental variables). We performed genetic risk score analysis as a one-sample MR and extended the finding with a two-sample MR analysis with CKD outcome information from the independent CKDGen Consortium genome-wide association study meta-analysis.ResultsShort or long sleep duration clinically associated with higher prevalence of CKD compared with intermediate duration. The genetic risk score for short (but not long) sleep was significantly related to CKD (per unit reflecting a two-fold increase in the odds of the phenotype; adjusted odds ratio, 1.80; 95% confidence interval, 1.25 to 2.60). Two-sample MR analysis demonstrated causal effects of short sleep duration on CKD by the inverse variance weighted method, supported by causal estimates from MR-Egger regression.ConclusionsThese findings support an adverse effect of a short sleep duration on kidney function. Clinicians may encourage patients to avoid short-duration sleeping behavior to reduce CKD risk.
| S-EPMC7790216 | biostudies-literature
Project description:Study objectivesShort and/or long sleep duration are associated with cardiometabolic disease risk and may be differentially experienced among minorities and the socioeconomically disadvantaged. The present study examined nationally representative data along multiple dimensions of race/ ethnicity and socioeconomic status.DesignCross-sectional.SettingSurvey.Patients or participants2007-2008 NHANES (N = 4,850).InterventionsNone.Measurements and resultsSelf-reported sleep duration was classified as very short (< 5 h), short (5-6 h), normative (7-8 h) and long (≥ 9 h). Population-weighted multinomial logistic regression analyses examined race/ ethnicity, country of origin, language, income, education, health insurance, and food security, controlling for all others as well as age, sex, marital-status, and overall self-rated health. Outcome was self-reported sleep duration, relative to normative sleep duration. Blacks/African Americans were more likely than whites to report very short (OR = 2.34, P < 0.001) and short (OR = 1.85, P < 0.001) sleep. Mexican Americans reported less long sleep (OR = 0.36, P = 0.032). Other Hispanics/ Latinos reported more very short sleep (OR = 2.69, P = 0.025). Asians/ Others reported more very short (OR = 3.99, P = 0.002) and short (OR = 2.08, P = 0.002) sleep. Mexico-born adults reported less short sleep (OR = 0.63, P = 0.042). Spanish-only speakers reported less very short sleep (OR = 0.32, P = 0.030). Lower income groups reported more very short sleep versus > $75,000. Compared to college graduates, increased very short sleep was seen among all lower education levels. Those with public insurance reported more very short (OR = 1.67, P = 0.31) and long (OR = 1.83, P = 0.011) sleep versus uninsured. Very low food security was associated with very short (OR = 1.86, P = 0.036) and short (OR = 1.44, P = 0.047) sleep.ConclusionsMinority status and lower socioeconomic position were associated with shorter self-reported sleep durations.
| S-EPMC3920327 | biostudies-literature
Project description:BackgroundPrevalence of short and long sleep duration varies in different countries and changes over time. There are limited studies on Iranians' sleep duration, and we aimed to evaluate the prevalence of short and long sleep duration and associated factors among people living in Kermanshah, Iran.MethodsThis population-based cross-sectional study was conducted between November 2014 and February 2017. Data was collected from 10,025 adults aged 35 to 65 years using census sampling, and we evaluated the short and long sleep duration (≤ 6 and ≥ 9 h, respectively) and its relation with the socio-demographic factors and health-related status of the participants.ResultsMean age of participants was 48.1 years (standard deviation = 8.2), and 47.4% of participants were male. Of our participants, 11.6% had short, and 21.9% had long sleep duration. Age ≥ 50 years, female gender, being single, mobile use for longer than 8 h per day, working in night shifts, moderate and good levels of physical activity, BMI ≥ 30, past smoking, and alcohol use were associated with short sleep duration (P < 0.05). Female gender and living in rural areas were associated with long sleep duration (P < 0.05).ConclusionIn the Ravansar population, short and long sleep duration are prevalent, with long sleep duration having higher prevalence. People at risk, such as night shift workers, as well as modifiable factors, such as mobile phone use, can be targeted with interventions to improve sleep hygiene.
| S-EPMC9422113 | biostudies-literature
Project description:Study objectivesLow or excessive sleep duration has been associated with multiple outcomes, but the biology behind these associations remains elusive. Specifically, genetic studies in children are scarce. In this study, we aimed to: (1) estimate the proportion of genetic variance of sleep duration in children attributed to common single nucleotide polymorphisms (SNPs), (2) identify novel SNPs associated with sleep duration in children, and (3) investigate the genetic overlap of sleep duration in children and related metabolic and psychiatric traits.MethodsWe performed a population-based molecular genetic study, using data form the EArly Genetics and Life course Epidemiology (EAGLE) Consortium. 10,554 children of European ancestry were included in the discovery, and 1,250 children in the replication phase.ResultsWe found evidence of significant but modest SNP heritability of sleep duration in children (SNP h2 0.14, 95% CI [0.05, 0.23]) using the LD score regression method. A novel region at chromosome 11q13.4 (top SNP: rs74506765, P = 2.27e-08) was associated with sleep duration in children, but this was not replicated in independent studies. Nominally significant genetic overlap was only found (rG = 0.23, P = 0.05) between sleep duration in children and type 2 diabetes in adults, supporting the hypothesis of a common pathogenic mechanism.ConclusionsThe significant SNP heritability of sleep duration in children and the suggestive genetic overlap with type 2 diabetes support the search for genetic mechanisms linking sleep duration in children to multiple outcomes in health and disease.
| S-EPMC5020368 | biostudies-literature
Project description:Disrupted circadian rhythms and reduced sleep duration are associated with several human diseases, particularly obesity and type 2 diabetes, but until recently, little was known about the genetic factors influencing these heritable traits. We performed genome-wide association studies of self-reported chronotype (morning/evening person) and self-reported sleep duration in 128,266 white British individuals from the UK Biobank study. Sixteen variants were associated with chronotype (P<5x10-8), including variants near the known circadian rhythm genes RGS16 (1.21 odds of morningness, 95% CI [1.15, 1.27], P = 3x10-12) and PER2 (1.09 odds of morningness, 95% CI [1.06, 1.12], P = 4x10-10). The PER2 signal has previously been associated with iris function. We sought replication using self-reported data from 89,283 23andMe participants; thirteen of the chronotype signals remained associated at P<5x10-8 on meta-analysis and eleven of these reached P<0.05 in the same direction in the 23andMe study. We also replicated 9 additional variants identified when the 23andMe study was used as a discovery GWAS of chronotype (all P<0.05 and meta-analysis P<5x10-8). For sleep duration, we replicated one known signal in PAX8 (2.6 minutes per allele, 95% CI [1.9, 3.2], P = 5.7x10-16) and identified and replicated two novel associations at VRK2 (2.0 minutes per allele, 95% CI [1.3, 2.7], P = 1.2x10-9; and 1.6 minutes per allele, 95% CI [1.1, 2.2], P = 7.6x10-9). Although we found genetic correlation between chronotype and BMI (rG = 0.056, P = 0.05); undersleeping and BMI (rG = 0.147, P = 1x10-5) and oversleeping and BMI (rG = 0.097, P = 0.04), Mendelian Randomisation analyses, with limited power, provided no consistent evidence of causal associations between BMI or type 2 diabetes and chronotype or sleep duration. Our study brings the total number of loci associated with chronotype to 22 and with sleep duration to three, and provides new insights into the biology of sleep and circadian rhythms in humans.
| S-EPMC4975467 | biostudies-literature
Project description:BackgroundMillions of COVID-19 survivors experience a wide range of long-term symptoms after acute infection, giving rise to serious public health concerns. To date, few risk factors for post-COVID-19 conditions have been determined. This study evaluated the role of pre-infection sleep quality/duration and insomnia severity in the incidence of long-term symptoms after COVID-19.Material and methodsThis prospective study involved two assessments (April 2020 and 2022). At the baseline (April 2020), sleep quality/duration and insomnia symptoms in participants without current/prior SARS-CoV-2 infection were measured using the Pittsburgh Sleep Quality Index (PSQI) and the Insomnia Severity Index (ISI). At the follow-up (April 2022), we asked a group of COVID-19 survivors to retrospectively evaluate the presence of twenty-one symptoms (psychiatric, neurological, cognitive, bodily, and respiratory) that have been experienced one month (n = 713, infection in April 2020-February 2022) and three months after COVID-19 (n = 333, infection in April 2020-December 2021). In April 2022, participants also reported how many weeks passed to fully recover from COVID-19. Zero-inflated negative binomial models were used to estimate the effect of previous sleep on the number of long-term symptoms. Binomial logistic regressions were performed to evaluate the association between sleep variables, the incidence of each post-COVID-19 symptom, and the odds of recovery four/twelve weeks after infection.ResultsAnalyses highlighted a significant effect of pre-infection sleep on the number of symptoms one/three months after COVID-19. Previous higher PSQI and ISI scores, and shorter sleep duration significantly increased the risk of almost every long-term symptom at one/three months from COVID-19. Baseline sleep problems were also associated with longer recovery times to return to the pre-infection daily functioning level after COVID-19.ConclusionsThis study suggested a prospective dose-dependent association of pre-infection sleep quality/quantity and insomnia severity with the manifestation of post-COVID-19 symptoms. Further research is warranted to determine whether preventively promoting sleep health may mitigate the COVID-19 sequelae, with substantial public health and societal implications.
| S-EPMC10251724 | biostudies-literature
Project description:Few studies have considered psychosocial characteristics when investigating the associations between sleep duration and blood pressure (BP). In this study, we took propensity score matching (PSM) to adjust for psychosocial characteristics when comparing BP between individuals with short sleep duration and those with normal sleep duration. A total of 429 participants were included. 72 participants with sleep duration ≤6 h and 65 participants with sleep duration >6 h were matched after PSM. We compared office BP, 24-hour BP, and prevalence of hypertension in the populations before and after PSM, respectively. In the unmatched population, participants with sleep duration ≤6 h were observed with higher office diastolic BP (DBP) and 24-h systolic BP (SBP)/DBP (all P < 0.05). In the matched populations, the differences between the two groups (sleep duration ≤6 h vs. sleep duration >6 h) in office DBP (88.4 ± 10.9 vs. 82.5 ± 11.1 mm Hg; P=0.002), 24-h SBP (134.7 ± 12.0 vs. 129.3 ± 11.6 mm Hg; P=0.009), and 24-h DBP (83.4 ± 9.9 vs. 78.1 ± 10.1 mm Hg; P=0.002) become more significant. Participants with sleep duration ≤6 h only show higher prevalence of hypertension based on 24-h BP data, while analysis after PSM further revealed that these with sleep duration ≤6 h presented about 20% higher prevalence of elevated BP up to office diagnosed hypertension threshold. Therefore, psychosocial characteristics accompanied with short sleep duration should be fully valued in individuals at risks for elevated BP. This trial is registered with NCT03866226.
| S-EPMC8651353 | biostudies-literature
Project description:ObjectivesBoth short sleep duration and obstructive sleep apnea (OSA) seem to be associated with insulin resistance. We aimed to explore whether short sleep duration modifies the relationship between OSA and insulin resistance.MethodsParticipants were consecutively enrolled from our sleep center during the period from 2007 to 2017. The index of homeostasis model assessment insulin resistance (HOMA-IR) was calculated from insulin and glucose. Sleep duration was determined by standard polysomnography. The associations between sleep duration and insulin resistance were estimated by logistic regression analyses.ResultsA total of 5447 participants (4507 OSA and 940 primary snorers) were included in the study. OSA was independently correlated with insulin resistance after adjusting for all potential confounders (OR, 1.319; 95% CI, 1.088-1.599), but not short sleep duration. In stratified analysis by sleep duration, compared with primary snorers, in the OSA group only extremely short sleep duration (< 5 h) was significantly associated with insulin resistance after adjusting for all covariates (OR, 2.229; 95% CI, 1.283-3.874). Rapid eye movement predominant OSA was significantly associated with insulin resistance (OR = 1.355, 95% CI: 1.019-1.802) after adjustment for confounding factors including age, sex and body mass index.ConclusionsOSA, but not short sleep duration, was independently associated with insulin resistance. It is worth noting that OSA combined with extremely short sleep duration showed a greater detrimental effect than OSA itself with regard to insulin resistance.
| S-EPMC7298870 | biostudies-literature
Project description:BackgroundTo quantitatively evaluate the evidence of duration and quality of sleep as measured by multiple health outcomes.MethodsThis review is registered with PROSPERO, number CRD42021235587. We systematically searched three databases from inception until November 15, 2020. For each meta-analysis, the summary effect size using fixed and random effects models, the 95% confidence interval, and the 95% prediction interval were assessed; heterogeneity, evidence of small-study effects, and excess significance bias were also estimated. According to the above metrics, we evaluated the credibility of each association.ResultsA total of 85 meta-analyses with 36 health outcomes were included in the study. We observed highly suggestive evidence for an association between long sleep and an increased risk of all-cause mortality. Moreover, suggestive evidence supported the associations between long sleep and 5 increased risk of health outcomes (stroke, dyslipidaemia, mortality of coronary heart disease, stroke mortality, and the development or death of stroke); short sleep and increased risk of overweight and/or obesity; poor sleep quality and increased risk of diabetes mellitus and gestational diabetes mellitus.ConclusionsOnly the evidence of the association of long sleep with an increased risk of all-cause mortality was graded as highly suggestive. Additional studies are needed to be conducted.Systematic Review Registration: https://www.crd.york.ac.uk/PROSPERO/, identifier: CRD42021235587.
| S-EPMC8811149 | biostudies-literature
Project description:ImportanceDisrupted sleep is common in aging and is associated with cognition. Age-related changes to sleep are associated with multiple causes, including early Alzheimer disease pathology (amyloid β [Aβ]), depression, and cardiovascular disease.ObjectiveTo investigate the associations between self-reported sleep duration and brain Aβ burden as well as the demographic, cognitive, and lifestyle variables in adults with normal cognition.Design, setting, and participantsThis cross-sectional study obtained data from participants in the Anti-Amyloid Treatment in Asymptomatic Alzheimer's Disease (A4) study, which is being conducted in 67 sites in the United States, Canada, Australia, and Japan. The sample for this analysis consisted of individuals aged 65 to 85 years who underwent an Aβ positron emission tomography (PET) scan, had complete apolipoprotein E (APOE) genotype data, and were identified as clinically normal (per a Clinical Dementia Rating score of 0) and cognitively unimpaired (per a Mini-Mental State Examination score of 25 to 30 and Logical Memory Delayed Recall test score of 6 to 18). Data were analyzed from April 3, 2020, to June 20, 2021.Main outcomes and measuresThe outcome was self-reported nightly sleep duration (grouped by short sleep duration: ≤6 hours, normal sleep duration: 7-8 hours, and long sleep duration: ≥9 hours) compared with demographic characteristics, Aβ burden (as measured with a fluorine 18-labeled-florbetapir PET scan), objective and subjective cognitive function measures, and lifestyle variables.ResultsThe 4417 participants in the study included 2618 women (59%) and had a mean (SD) age of 71.3 (4.7) years. Self-reported shorter sleep duration was linearly associated with higher Aβ burden (β [SE] = -0.01 [0.00]; P = .005), and short sleep duration was associated with reduced cognition that was mostly in memory domains. No difference in Aβ was found between long and normal sleep duration groups (β [SE] = 0.00 [0.01]; P = .99). However, compared with normal sleep duration, both short and long sleep durations were associated with higher body mass index (short vs normal sleep duration: β [SE] = 0.48 [0.17], P = .01; long vs normal sleep duration: β [SE] = 0.97 [0.31], P = .002), depressive symptoms (short vs normal sleep duration: β [SE] = 0.31 [0.05], P < .001; long vs normal sleep duration: β [SE] = 0.39 [0.09], P < .001), and daytime napping (short vs normal sleep duration: β [SE] = 2.66 [0.77], P = .001; long vs normal sleep duration: β [SE] = 3.62 [1.38], P = .01). Long sleep duration was associated with worse performance across multiple cognitive domains.Conclusions and relevanceIn this cross-sectional study, both short and long sleep durations were associated with worse outcomes for older adults, such as greater Aβ burden, greater depressive symptoms, higher body mass index, and cognitive decline, emphasizing the importance of maintaining adequate sleep.
| S-EPMC8406215 | biostudies-literature