Genetics of Obstructive Sleep Apnea

  1. Patiño-García, Ana 1
  1. 1 Clínica Universitaria de Navarra
    info

    Clínica Universitaria de Navarra

    Pamplona, España

    ROR https://ror.org/03phm3r45

Liburua:
Obstructive Sleep Apnea

Argitaletxea: Springer

ISBN: 978-3-031-35224-9 978-3-031-35225-6

Argitalpen urtea: 2023

Orrialdeak: 479-486

Mota: Liburuko kapitulua

DOI: 10.1007/978-3-031-35225-6_28 GOOGLE SCHOLAR lock_openSarbide irekia editor

Laburpena

Obstructive sleep apnea (OSA) is a highly prevalent disease with severe effects on health. Nevertheless, nowadays, we lack biomarkers for OSA diagnosis that provide information about treatment outcomes, complications, and comorbidities. OSA is a very complex trait from the clinical and genetic points of view. It is conditioned by a plethora of low-risk genes, their interactions, and their interplay with a network of environmental factors. This chapter aims to be a review of the different genetic biomarkers of OSA as well as the different types of study designs for their identification, namely linkage analyses, genome-wide association studies (GWAS), candidate gene association studies, and whole-genome or -exome sequencing by next-generation sequencing (NGS).

Erreferentzia bibliografikoak

  • Ovchinsky A, Rao M, Lotwin I, Goldstein NA. The familial aggregation of pediatric obstructive sleep apnea syndrome. Arch Otolaryngol Head Neck Surg. 2002;128:815–8. https://doi.org/10.1001/archotol.128.7.815.
  • Redline S, Tishler PV. The genetics of sleep apnea. Sleep Med Rev. 2000;4:583–602. https://doi.org/10.1053/smrv.2000.0120.
  • Mukherjee S, Saxena R, Palmer LJ. The genetics of obstructive sleep apnoea. Respirology. 2018;23:18–27. https://doi.org/10.1111/resp.13212.
  • Palmer LJ, Buxbaum SG, Larkin E, Patel SR, Elston RC, Tishler PV, Redline S. Whole-genome scan for obstructive sleep apnea and obesity. Am J Hum Genet. 2003;72:340–50. https://doi.org/10.1164/rccm.200304-493OC.
  • McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet. 2008;9:356–69. https://doi.org/10.1038/nrg2344.
  • GWAS Catalogue. https://www.ebi.ac.uk/gwas/. Accessed 2 April 2022; n.d..
  • Cade BE, Chen H, Stilp AM, Gleason KJ, Sofer T, Ancoli-Israel S, et al. Genetic associations with obstructive sleep apnea traits in Hispanic/Latino Americans. Am J Respir Crit Care Med. 2016;194:886–97. https://doi.org/10.1164/rccm.201512-2431OC.
  • FinnGen Project. https://www.finngen.fi/en. Accessed 2 April 2022; n.d..
  • Strausz S, Ruotsalainen S, Ollila HM, Karjalainen J, Kiiskinen T, Reeve M, et al. Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health. Eur Respir J. 2021;57:2003091. https://doi.org/10.1183/13993003.03091-2020.
  • Baik I, Seo HS, Yoon D, Kim SH, Shin C. Associations of sleep apnea, NRG1 polymorphisms, alcohol consumption, and cerebral white matter hyperintensities: analysis with genome-wide association data. Sleep. 2015;38:1137–43. https://doi.org/10.5665/sleep.4830.
  • Parish JM. Genetic and immunologic aspects of sleep and sleep disorders. Chest. 2013;143:1489–99. https://doi.org/10.1378/chest.12-1219.
  • Qin B, Sun Z, Liang Y, Yang Z, Zhong R. The association of 5-HT2A, 5-HTT, and LEPR polymorphisms with obstructive sleep apnea syndrome: a systematic review and meta-analysis. PLoS One. 2014;9:e95856. https://doi.org/10.1371/journal.pone.0095856.
  • Parsons MJ. On the genetics of sleep disorders: genome-wide association studies and beyond. Adv Genom Genet. 2015;5:293–303. https://doi.org/10.2147/AGG.S57139.
  • Patel SR, Goodloe R, De G, Kowgier M, Weng J, Buxbaum SG, et al. Association of genetic loci with sleep apnea in European Americans and African-Americans. PLoS One. 2012;7:e48836. https://doi.org/10.1371/journal.pone.0048836.
  • van der Spek A, Luik AI, Kocevska D, Liu C, Brouwer RWW, van Rooij JGJ, et al. Exome-wide meta-analysis identifies rare 3'-UTR variant in ERCC1/CD3EAP associated with symptoms of sleep apnea. Front Genet. 2017;8:151. https://doi.org/10.3389/fgene.2017.00151.
  • Gehrman PR, Keenan BT, Byrne EM, Pack AI. Genetics of sleep disorders. Psychiatr Clin North Am. 2015;38:667–81. https://doi.org/10.1016/j.psc.2015.07.004.
  • Zinchuk AV, Gentry MJ, Concato J, Yaggi HK. Phenotypes in obstructive sleep apnea: a definition, examples and evolution of approaches. Sleep Med Rev. 2017;35:113e123. https://doi.org/10.1016/j.smrv.2016.10.002.
  • Li HY, Tsai MS, Huang CG, Wang RYL, Chuang LP, Chen NH, Liu CH, Hsu CM, Cheng WN, Lee LA. Alterations in Alzheimer's disease-associated gene expression in severe obstructive sleep apnea patients. J Clin Med. 2019;8(9):1361. https://doi.org/10.3390/jcm8091361.
  • Chen YC, Chen KD, Su MC, Chin CH, Chen CJ, Liou CW, et al. Genome-wide gene expression array identifies novel genes related to disease severity and excessive daytime sleepiness in patients with obstructive sleep apnea. PLoS One. 2017;12:e0176575. https://doi.org/10.1371/journal.pone.0176575.
  • Khurana S, Sharda S, Saha B, Kumar S, Guleria R, Bose S. Canvassing the aetiology, prognosis and molecular signatures of obstructive sleep apnoea. Biomarkers. 2019;24:1–16. https://doi.org/10.1080/1354750X.2018.1514655.
  • Chen YC, Chen TW, Su MC, Chen CJ, Chen KD, Liou CW, et al. Whole genome DNA methylation analysis of obstructive sleep apnea: IL1R2, NPR2, AR, SP140 methylation and clinical phenotype. Sleep. 2016;39:743–55. https://doi.org/10.5665/sleep.5620.
  • Kim J, Bhattacharjee R, Khalyfa A, Kheirandish-Gozal L, Capdevila OS, Wang Y, Gozal D. DNA methylation in inflammatory genes among children with obstructive sleep apnea. Am J Respir Crit Care Med. 2012;185:330–8. https://doi.org/10.1164/rccm.201106-1026OC.
  • Ambati A, Ju YE, Lin L, Olesen AN, Koch H, Hedou JJ, et al. Proteomic biomarkers of sleep apnea. Sleep. 2020;43:zsaa086. https://doi.org/10.1093/sleep/zsaa086.