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Identification of obstructive sleep apnea and risk factors is important for reduction in symptoms and cardiovascular risk, and for improvement of quality of life. The population‐based Study of Health in Pomerania investigated risk factors and clinical diseases in a general population of northeast Germany. Additional polysomnography was applied to measure sleep and respiration with the objective of assessing prevalence and risk factors of obstructive sleep apnea in a German cohort. One‐thousand, two‐hundred and eight people between 20 and 81 years old (54% men, median age 54 years) underwent overnight polysomnography. The estimated obstructive sleep apnea prevalence was 46% (59% men, 33% women) for an apnea–hypopnea index ≥5%, and 21% (30% men, 13% women) for an apnea–hypopnea index ≥ 15. The estimated obstructive sleep apnea syndrome prevalence (apnea–hypopnea index ≥5; Epworth Sleepiness Scale >10) was 6%. The prevalence of obstructive sleep apnea continuously increased with age for men and women with, however, later onset for women. Gender, age, body mass index, waist‐to‐hip ratio, snoring, alcohol consumption (for women only) and self‐reported cardiovascular diseases were significantly positively associated with obstructive sleep apnea, whereas daytime sleepiness was not. Diabetes, hypertension and metabolic syndrome were positively associated with severe obstructive sleep apnea. The associations became non‐significant after adjustment for body mass. Women exhibited stronger associations than men. The prevalence of obstructive sleep apnea was high, with almost half the population presenting some kind of obstructive sleep apnea. The continuous increase of obstructive sleep apnea with age challenges the current theory that mortality due to obstructive sleep apnea and cardiovascular co‐morbidities affect obstructive sleep apnea prevalence at an advanced age. Also, gender differences regarding obstructive sleep apnea and associations are significant for recognizing obstructive sleep apnea mechanisms and therapy responsiveness.

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BackgroundIn view of the reduced number of hours devoted to sleep in modern western societies the question arises what effects might result from sleep duration on occurrence of chronic diseases.MethodsData from 23 620 middle-aged participants of the European Prospective Investigation into Cancer and Nutrition (EPIC)-Potsdam study, that were recruited between 1994–1998, were analyzed by using Cox proportional hazard regression to examine the association between self-reported sleep duration at baseline and incidence of chronic diseases, such as diabetes, myocardial infarction, stroke, and cancer.ResultsDuring a mean follow-up period of 7.8 years 841 incident cases of type 2 diabetes, 197 cases of myocardial infarction, 169 incident strokes, and 846 tumor cases were observed. Compared to persons sleeping 7-<8 h/day, participants with sleep duration of <6 h had a significantly increased risk of stroke (Hazard Ratio (HR) = 2.06, 95% confidence interval (CI): 1.18–3.59), cancer (HR = 1.43, 95% CI: 1.09–1.87), and overall chronic diseases (HR = 1.31, 95% CI: 1.10–1.55) in multivariable adjusted models. Self-reported daytime sleep at baseline was not associated with incident chronic diseases in the overall study sample. However, there had been an effect modification of daytime sleep by hypertension showing that daytime sleep was inversely related to chronic disease risk among non-hypertensive participants but directly related to chronic diseases among hypertensives.ConclusionSleep duration of less than 6 h is a risky behavior for the development of chronic diseases, particularly stroke and cancer, and should be therefore addressed in public health campaigns.

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Restless legs syndrome (RLS) is a sensorimotor disorder with an age-dependent prevalence of up to 10% in the general population above 65 years of age. Affected individuals suffer from uncomfortable sensations and an urge to move in the lower limbs that occurs mainly in resting situations during the evening or at night. Moving the legs or walking leads to an improvement of symptoms. Concomitantly, patients report sleep disturbances with consequences such as reduced daytime functioning. We conducted a genome-wide association study (GWA) for RLS in 922 cases and 1,526 controls (using 301,406 SNPs) followed by a replication of 76 candidate SNPs in 3,935 cases and 5,754 controls, all of European ancestry. Herein, we identified six RLS susceptibility loci of genome-wide significance, two of them novel: an intergenic region on chromosome 2p14 (rs6747972, P = 9.03 × 10−11, OR = 1.23) and a locus on 16q12.1 (rs3104767, P = 9.4 × 10−19, OR = 1.35) in a linkage disequilibrium block of 140 kb containing the 5′-end of TOX3 and the adjacent non-coding RNA BC034767.

SummaryBackgroundRestless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve treatment options. We did a meta-analysis of genome-wide association studies (GWASs) to identify potential molecular targets.MethodsIn the discovery stage, we combined three GWAS datasets (EU-RLS GENE, INTERVAL, and 23andMe) with diagnosis data collected from 2003 to 2017, in face-to-face interviews or via questionnaires, and involving 15 126 cases and 95 725 controls of European ancestry. We identified common variants by fixed-effect inverse-variance meta-analysis. Significant genome-wide signals (p≤5 × 10−8) were tested for replication in an independent GWAS of 30 770 cases and 286 913 controls, followed by a joint analysis of the discovery and replication stages. We did gene annotation, pathway, and gene-set-enrichment analyses and studied the genetic correlations between restless legs syndrome and traits of interest.FindingsWe identified and replicated 13 new risk loci for restless legs syndrome and confirmed the previously identified six risk loci. MEIS1 was confirmed as the strongest genetic risk factor for restless legs syndrome (odds ratio 1·92, 95% CI 1·85–1·99). Gene prioritisation, enrichment, and genetic correlation analyses showed that identified pathways were related to neurodevelopment and highlighted genes linked to axon guidance (associated with SEMA6D), synapse formation (NTNG1), and neuronal specification (HOXB cluster family and MYT1).InterpretationIdentification of new candidate genes and associated pathways will inform future functional research. Advances in understanding of the molecular mechanisms that underlie restless legs syndrome could lead to new treatment options. We focused on common variants; thus, additional studies are needed to dissect the roles of rare and structural variations.FundingDeutsche Forschungsgemeinschaft, Helmholtz Zentrum München–Deutsches Forschungszentrum für Gesundheit und Umwelt, National Research Institutions, NHS Blood and Transplant, National Institute for Health Research, British Heart Foundation, European Commission, European Research Council, National Institutes of Health, National Institute of Neurological Disorders and Stroke, NIH Research Cambridge Biomedical Research Centre, and UK Medical Research Council.