mendelian-randomization-of-sleep-and-circadian-traits-–-springer

Mendelian Randomization of Sleep and Circadian Traits – Springer

  • Circadian Rhythms. October 2020; 1–3. Available from: https://nigms.nih.gov/education/fact-sheets/Documents/fact-sheet-circadian-rhythms.pdf.

  • Nath RD, et al. The Jellyfish Cassiopea exhibits a sleep-like state. Curr Biol. 2017;27(19):2984–2990 e3.

  • Kamangar F. Confounding variables in epidemiologic studies: basics and beyond. Arch Iran Med. 2012;15(8):508–16.

  • Seijo LM, et al. Obstructive sleep apnea and nocturnal hypoxemia are associated with an increased risk of lung cancer. Sleep Med. 2019;63:41–5.

  • Cheng L, et al. Obstructive sleep apnea and incidence of malignant tumors: a meta-analysis. Sleep Med. 2021;84:195–204.

  • Esen AD, Akpinar M. Relevance of obstructive sleep apnea and smoking: obstructive sleep apnea and smoking. Fam Pract. 2021;38(2):181–6.

  • Lin YN, Li QY, Zhang XJ. Interaction between smoking and obstructive sleep apnea: not just participants. Chin Med J. 2012;125(17):3150–6.

  • Aredo JV, et al. Tobacco smoking and risk of second primary lung cancer. J Thorac Oncol. 2021;16(6):968–79.

  • Atherton H. In: Health Do, editor. Confounding in epidemiological studies. Epidemiology for specialists. London: Imperial College; 2017. PHAST.

  • Smith GD, Ebrahim S. ‘Mendelian randomization’: can genetic epidemiology contribute to understanding environmental determinants of disease? Int J Epidemiol. 2003;32(1):1–22.

  • Zheng J, et al. Recent developments in Mendelian randomization studies. Curr Epidemiol Rep. 2017;4(4):330–45.

  • Emdin CA, Khera AV, Kathiresan S. Mendelian randomization. JAMA. 2017;318(19):1925–6.

  • Uffelmann E, Huang QQ, Munung NS. Genome-wide association studies. Nat Rev Methods Primers. 2021;1:59.

  • Garfield V. Sleep duration: a review of genome-wide association studies (GWAS) in adults from 2007 to 2020. Sleep Med Rev. 2021;56:101413.

  • Hemani G, et al. The MR-Base platform supports systematic causal inference across the human phenome. elife. 2018;7:e34408.

  • Sudlow C, et al. UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med. 2015;12(3):e1001779.

  • Triendl R. Japan launches controversial Biobank project. Nat Med. 2003;9(8):982.

  • Chen Z, et al. China Kadoorie Biobank of 0.5 million people: survey methods, baseline characteristics and long-term follow-up. Int J Epidemiol. 2011;40(6):1652–66.

  • Sonti S, Grant SFA. Leveraging genetic discoveries for sleep to determine causal relationships with common complex traits. Sleep. 2022 Oct 10;45(10):zsac180.

  • Stefansson H, et al. A genetic risk factor for periodic limb movements in sleep. N Engl J Med. 2007;357(7):639–47.

  • Winkelmann J, et al. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet. 2007;39(8):1000–6.

  • Didriksen M, et al. Large genome-wide association study identifies three novel risk variants for restless legs syndrome. Commun Biol. 2020;3(1):703.

  • Schormair B, et al. Reassessment of candidate gene studies for idiopathic restless legs syndrome in a large GWAS dataset of European ancestry. Sleep. 2022 Aug 11;45(8):zsac098.

  • Miyagawa T, et al. Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. Nat Genet. 2008;40(11):1324–8.

  • Luca G, et al. Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study. J Sleep Res. 2013;22(5):482–95.

  • Hallmayer J, et al. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet. 2009;41(6):708–11.

  • Faraco J, et al. ImmunoChip study implicates antigen presentation to T cells in narcolepsy. PLoS Genet. 2013;9(2):e1003270.

  • Han F, et al. Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic. PLoS Genet. 2013;9(10):e1003880.

  • Jones SE, et al. Genome-wide association analyses in 128,266 individuals identifies new morningness and sleep duration loci. PLoS Genet. 2016;12(8):e1006125.

  • Hu Y, et al. GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. Nat Commun. 2016;7:10448.

  • Lane JM, et al. Genome-wide association analysis identifies novel loci for chronotype in 100,420 individuals from the UK Biobank. Nat Commun. 2016;7:10889.

  • Lane JM, et al. Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. Nat Genet. 2017;49(2):274–81.

  • Dashti HS, et al. Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates. Nat Commun. 2019;10(1):1100.

  • Hammerschlag AR, et al. Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits. Nat Genet. 2017;49(11):1584–92.

  • Eriksson N, et al. Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genet. 2010;6(6):e1000993.

  • Tung JY, et al. Efficient replication of over 180 genetic associations with self-reported medical data. PLoS One. 2011;6(8):e23473.

  • Jansen PR, et al. Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways. Nat Genet. 2019;51(3):394–403.

  • Strausz S, et al. Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health. Eur Respir J. 2021;57(5):2003091.

  • Hoffmann TJ, et al. A large multiethnic genome-wide association study of adult body mass index identifies novel loci. Genetics. 2018;210(2):499–515.

  • Xu H, et al. Genome-wide association study of obstructive sleep apnea and objective sleep-related traits identifies novel risk loci in Han Chinese individuals. Am J Respir Crit Care Med. 2022;206(12):1534–45.

  • Quinlan CM, et al. Identification of novel loci in obstructive sleep apnea in European American and African American children. Sleep. 2024 Mar 11;47(3):zsac182.

  • Staley JR, et al. PhenoScanner: a database of human genotype-phenotype associations. Bioinformatics. 2016;32(20):3207–9.

  • Zheng J, et al. LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis. Bioinformatics. 2017;33(2):272–9.

  • Burgess S, et al. Guidelines for performing Mendelian randomization investigations. Wellcome Open Res. 2019;4:186.

  • Hartwig FP, et al. Two-sample Mendelian randomization: avoiding the downsides of a powerful, widely applicable but potentially fallible technique. Int J Epidemiol. 2016;45(6):1717–26.

  • Burgess S, et al. Network Mendelian randomization: using genetic variants as instrumental variables to investigate mediation in causal pathways. Int J Epidemiol. 2015;44(2):484–95.

  • Haycock PC, et al. Best (but oft-forgotten) practices: the design, analysis, and interpretation of Mendelian randomization studies. Am J Clin Nutr. 2016;103(4):965–78.

  • Rees JMB, Foley CN, Burgess S. Factorial Mendelian randomization: using genetic variants to assess interactions. Int J Epidemiol. 2020;49(4):1147–58.

  • Montgomery AA, Peters TJ, Little P. Design, analysis and presentation of factorial randomised controlled trials. BMC Med Res Methodol. 2003;3:26.

  • Burgess S, Thompson SG. Multivariable Mendelian randomization: the use of pleiotropic genetic variants to estimate causal effects. Am J Epidemiol. 2015;181(4):251–60.

  • Burgess S, Butterworth A, Thompson SG. Mendelian randomization analysis with multiple genetic variants using summarized data. Genet Epidemiol. 2013;37(7):658–65.

  • Bowden J, Davey Smith G, Burgess S. Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression. Int J Epidemiol. 2015;44(2):512–25.

  • Tang Y, et al. Sleep deprivation worsens inflammation and delays recovery in a mouse model of colitis. Sleep Med. 2009;10(6):597–603.

  • Jarasvaraparn C, et al. The relationship between sleep disturbance and disease activity in pediatric patients with inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2019;68(2):237–43.

  • Marinelli C, et al. Sleep disturbance in inflammatory bowel disease: prevalence and risk factors – a cross-sectional study. Sci Rep. 2020;10(1):507.

  • Hao G, et al. Sleep quality and disease activity in patients with inflammatory bowel disease: a systematic review and meta-analysis. Sleep Med. 2020;75:301–8.

  • Chen M, et al. Differential sleep traits have no causal effect on inflammatory bowel diseases: a Mendelian randomization study. Front Pharmacol. 2021;12:763649.

  • Cullell N, et al. Sleep/wake cycle alterations as a cause of neurodegenerative diseases: a Mendelian randomization study. Neurobiol Aging. 2021;106:320 e1–320 e12.

  • Iranzo A. Sleep in neurodegenerative diseases. Sleep Med Clin. 2016;11(1):1–18.

  • Schmidt C, Peigneux P, Cajochen C. Age-related changes in sleep and circadian rhythms: impact on cognitive performance and underlying neuroanatomical networks. Front Neurol. 2012;3:118.

  • Abbott SM, Videnovic A. Chronic sleep disturbance and neural injury: links to neurodegenerative disease. Nat Sci Sleep. 2016;8:55–61.

  • Henry A, et al. The relationship between sleep duration, cognition and dementia: a Mendelian randomization study. Int J Epidemiol. 2019;48(3):849–60.

  • Sun J, et al. Polygenic evidence and overlapped brain functional connectivities for the association between chronic pain and sleep disturbance. Transl Psychiatry. 2020;10(1):252.

  • Broberg M, et al. Mendelian randomization highlights insomnia as a risk factor for pain diagnoses. Sleep. 2021;44(7):zsab025.

  • Anderson EL, et al. Is disrupted sleep a risk factor for Alzheimer’s disease? Evidence from a two-sample Mendelian randomization analysis. Int J Epidemiol. 2021;50(3):817–28.

  • Yuan S, et al. Sleep duration, genetic susceptibility, and Alzheimer’s disease: a longitudinal UK Biobank-based study. BMC Geriatr. 2022;22(1):638.

  • Huang J, et al. Sleep, major depressive disorder, and Alzheimer disease: a Mendelian randomization study. Neurology. 2020;95(14):e1963–70.

  • Chen D, et al. Sleep and late-onset Alzheimer’s disease: shared genetic risk factors, drug targets, molecular mechanisms, and causal effects. Front Genet. 2022;13:794202.

  • Li J, et al. Obstructive sleep apnea and the risk of Alzheimer’s disease and Parkinson disease: a Mendelian randomization study OSA, Alzheimer’s disease and Parkinson disease. Sleep Med. 2022;97:55–63.

  • Zhang G, et al. Daytime sleepiness might increase the risk of ALS: a 2-sample Mendelian randomization study. J Neurol. 2021;268(11):4332–9.

  • Di H, et al. Bidirectional Mendelian randomization to explore the causal relationships between Sleep traits, Parkinson’s disease and Amyotrophic lateral sclerosis. Sleep Med. 2022;96:42–9.

  • Grover S, Sharma M. International age-related macular degeneration genomics, sleep, pain, and neurodegeneration: a Mendelian randomization study. Front Neurol. 2022;13:765321.

  • Noyce AJ, et al. The Parkinson’s disease Mendelian randomization research portal. Mov Disord. 2019;34(12):1864–72.

  • Harvey AG. A transdiagnostic approach to treating sleep disturbance in psychiatric disorders. Cogn Behav Ther. 2009;38(Suppl 1):35–42.

  • Walker WH 2nd, et al. Circadian rhythm disruption and mental health. Transl Psychiatry. 2020;10(1):28.

  • Jones SE, et al. Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms. Nat Commun. 2019;10(1):343.

  • Choi KW, et al. An exposure-wide and Mendelian randomization approach to identifying modifiable factors for the prevention of depression. Am J Psychiatry. 2020;177(10):944–54.

  • Cai L, et al. Causal links between major depressive disorder and insomnia: a Mendelian randomisation study. Gene. 2021;768:145271.

  • Zhou F, et al. Assessing the causal associations of insomnia with depressive symptoms and subjective well-being: a bidirectional Mendelian randomization study. Sleep Med. 2021;87:85–91.

  • Daghlas I, et al. Genetically proxied diurnal preference, sleep timing, and risk of major depressive disorder. JAMA Psychiatry. 2021;78(8):903–10.

  • O’Loughlin J, et al. Using Mendelian randomisation methods to understand whether diurnal preference is causally related to mental health. Mol Psychiatry. 2021;26(11):6305–16.

  • Sun X, et al. Sleep disturbance and psychiatric disorders: a bidirectional Mendelian randomisation study. Epidemiol Psychiatr Sci. 2022;31:e26.

  • Baranova A, Cao H, Zhang F. Shared genetic liability and causal effects between major depressive disorder and insomnia. Hum Mol Genet. 2022;31(8):1336–45.

  • Chen G, et al. Association between depression and sleep apnoea: a Mendelian randomisation study. ERJ Open Res. 2022;8(1):00394-2021.

  • Gao X, et al. The bidirectional causal relationships of insomnia with five major psychiatric disorders: a Mendelian randomization study. Eur Psychiatry. 2019;60:79–85.

  • Wang Z, et al. The causal relationship between sleep traits and the risk of schizophrenia: a two-sample bidirectional Mendelian randomization study. BMC Psychiatry. 2022;22(1):399.

  • Carpena MX, et al. Sleep-related traits and attention-deficit/hyperactivity disorder comorbidity: shared genetic risk factors, molecular mechanisms, and causal effects. World J Biol Psychiatry. 2021;22(10):778–91.

  • Rangaraj VR, Knutson KL. Association between sleep deficiency and cardiometabolic disease: implications for health disparities. Sleep Med. 2016;18:19–35.

  • Doherty A, et al. GWAS identifies 14 loci for device-measured physical activity and sleep duration. Nat Commun. 2018;9(1):5257.

  • Jones SE, et al. Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour. Nat Commun. 2019;10(1):1585.

  • Xiuyun W, et al. Network Mendelian randomization study: exploring the causal pathway from insomnia to type 2 diabetes. BMJ Open Diabetes Res Care. 2022;10(1):e002510.

  • Wang J, et al. Sleep duration and adiposity in children and adults: observational and Mendelian randomization studies. Obesity (Silver Spring). 2019;27(6):1013–22.

  • Campos AI, et al. Insights into the aetiology of snoring from observational and genetic investigations in the UK Biobank. Nat Commun. 2020;11(1):817.

  • Chen W, et al. Causal effect of obstructive sleep apnea on atrial fibrillation: a Mendelian randomization study. J Am Heart Assoc. 2021;10(23):e022560.

  • Chen L, et al. Obstructive sleep apnea and atrial fibrillation: insights from a bidirectional Mendelian randomization study. BMC Med Genet. 2022;15(1):28.

  • Li Y, et al. Assessment of the causal effects of obstructive sleep apnea on atrial fibrillation: a Mendelian randomization study. Front Cardiovasc Med. 2022;9:843681.

  • Ardissino M, et al. Sleep disordered breathing, obesity and atrial fibrillation: a Mendelian randomisation study. Genes (Basel). 2022;13(1):104.

  • Dashti HS, Ordovas JM. Genetics of sleep and insights into its relationship with obesity. Annu Rev Nutr. 2021;41:223–52.

  • Dashti HS, et al. Genetic determinants of daytime napping and effects on cardiometabolic health. Nat Commun. 2021;12(1):900.

  • Yuan S, Larsson SC. An atlas on risk factors for type 2 diabetes: a wide-angled Mendelian randomisation study. Diabetologia. 2020;63(11):2359–71.

  • Gao X, et al. Investigating causal relations between sleep-related traits and risk of type 2 diabetes mellitus: a Mendelian randomization study. Front Genet. 2020;11:607865.

  • Jia Y, et al. Diet, lifestyle behaviour and other risk factors associated with type 2 diabetes beyond body mass index: a Mendelian randomization study. Can J Diabetes. 2022;46:822–8.

  • Wang J, et al. Sleep duration and risk of diabetes: observational and Mendelian randomization studies. Prev Med. 2019;119:24–30.

  • Ai S, et al. Causal associations of short and long sleep durations with 12 cardiovascular diseases: linear and nonlinear Mendelian randomization analyses in UK Biobank. Eur Heart J. 2021;42(34):3349–57.

  • Liu X, et al. Genetically predicted insomnia in relation to 14 cardiovascular conditions and 17 cardiometabolic risk factors: a Mendelian randomization study. J Am Heart Assoc. 2021;10(15):e020187.

  • Larsson SC, Markus HS. Genetic liability to insomnia and cardiovascular disease risk. Circulation. 2019;140(9):796–8.

  • Daghlas I, et al. Sleep duration and myocardial infarction. J Am Coll Cardiol. 2019;74(10):1304–14.

  • van Oort S, et al. Modifiable lifestyle factors and heart failure: a Mendelian randomization study. Am Heart J. 2020;227:64–73.

  • van Oort S, et al. Association of cardiovascular risk factors and lifestyle behaviors with hypertension: a Mendelian randomization study. Hypertension. 2020;76(6):1971–9.

  • Titova OE, Michaelsson K, Larsson SC. Sleep duration and stroke: prospective cohort study and Mendelian randomization analysis. Stroke. 2020;51(11):3279–85.

  • Lu H, et al. Sleep duration and stroke: a Mendelian randomization study. Front Neurol. 2020;11:976.

  • Richmond RC, et al. Investigating causal relations between sleep traits and risk of breast cancer in women: Mendelian randomisation study. BMJ. 2019;365:l2327.

  • Sun X, et al. Genetically proxied morning chronotype was associated with a reduced risk of prostate cancer. Sleep. 2021;44(10):zsab104.

  • Yuan S, et al. Morning chronotype and digestive tract cancers: Mendelian randomization study. Int J Cancer. 2022;152:697–704.

  • Yap DWT, et al. The association of obstructive sleep apnea with breast cancer incidence and mortality: a systematic review and meta-analysis. J Breast Cancer. 2022;25(3):149–63.

  • Gao XL, et al. Obstructive sleep apnea syndrome and causal relationship with female breast cancer: a Mendelian randomization study. Aging (Albany NY). 2020;12(5):4082–92.

  • Wang J, et al. Association between sleep traits and lung cancer: a Mendelian randomization study. J Immunol Res. 2021;2021:1893882.

  • Shen J, et al. Genetic liability to insomnia and lung cancer risk: a Mendelian randomization analysis. Front Genet. 2021;12:756908.

  • Huo Z, et al. Genetically predicted insomnia and lung cancer risk: a Mendelian randomization study. Sleep Med. 2021;87:183–90.

  • Wu Y, et al. GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression. Nat Commun. 2021;12(1):1146.

  • Yang Q, et al. Associations between insomnia and pregnancy and perinatal outcomes: evidence from Mendelian randomization and multivariable regression analyses. PLoS Med. 2022;19(9):e1004090.

  • Ni J, et al. Evidence for causal effects of sleep disturbances on risk for osteoarthritis: a univariable and multivariable Mendelian randomization study. Osteoarthr Cartil. 2021;30:443–50.

  • Mazidi M, et al. Longer sleep duration may negatively affect renal function. Int Urol Nephrol. 2021;53(2):325–32.

  • Dashti HS, Redline S, Saxena R. Polygenic risk score identifies associations between sleep duration and diseases determined from an electronic medical record biobank. Sleep. 2019;42(3):zsy247.

  • Edelson JL, et al. The genetic etiology of periodic leg movement in sleep. Sleep. 2022;46(4):zsac121.

  • Wilkins AS. Canalization: a molecular genetic perspective. BioEssays. 1997;19(3):257–62.

  • Khera AV, et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018;50(9):1219–24.