Indian Journal of Sleep Medicine

Register      Login

VOLUME 3 , ISSUE 4 ( October-December, 2008 ) > List of Articles

REVIEW ARTICLE

Obstructive Sleep Apnea Syndrome : Genetic and Biochemical Perspective

Swati Dixit, Abhishek Dubey, Suneeta Tewari

Keywords : Obstructive sleep apnoea syndrome (OSAS), inflammation, oxidative stress.

Citation Information : Dixit S, Dubey A, Tewari S. Obstructive Sleep Apnea Syndrome : Genetic and Biochemical Perspective. Indian Sleep Med 2008; 3 (4):122-127.

DOI: 10.5005/ijsm-3-4-122

License: NA

Published Online: 01-10-2018

Copyright Statement:  NA


Abstract

Obstructive sleep apnoea syndrome (OSAS) is a disorder characterized by repetitive complete or partial upper airway collapse occurring during sleep with daytime sleepiness. The health impact of obstructive sleep apnoea is enormous. Chronic intermittent nature of the physiologic disturbances associated with this disorder is major cause of its related morbidity e.g. the accompanying intermittent hypoxia with ventilatory overshoot hyperoxia, sympathetic nervous system surges, and enhanced state of inflammation, oxidative stress and endothelial dysfunction are potential mechanistic pathways leading to conditions including hypertension, nocturnal cardiac arrhythmias, cardiovascular disease, stroke, insulin resistance and increased mortality. Quality of life may also be affected in obstructive sleep apnoea syndrome with increased likelihood of drowsy driving/accidents, mood disorders and neurocognitive deficits. This study is an effort to identify potential perception for genetic and biochemical basis of risk factors of OSAS and related co-morbidities.


PDF Share
  1. McNicholas WT, Clinical diagnosis and assessment of obstructive sleep apnoea syndrome. Monaldi Arch Chest Dis 1997; 52:37–42
  2. McNicholas WT, Diagnostic criteria for the sleep apnoea syndrome: time for consensus. Eur Respir J 1996; 9:634– 635
  3. Sharma SK, Kumpawat Saket Prevalence and Risk Factors of Obstructive Sleep Apnea Syndrome in a Population of Delhi, India CHEST 2006; 130:149–156
  4. Mehra Reena. Awakening India to obstructive sleep apnoea syndrome Indian J Med Res 124, September 2006, pp 231-234
  5. Flemons WW, Buysse D, Redline S, et al. Sleep-related breathing disorders in adults: recommendations and measurement techniques in clinical research. Report of an American Academy of Sleep Medicine Task Force. Sleep 1999;22:533-70.
  6. A. Kaparianos, F. Sampsonas, K. Karkoulias, K. Spiropoulos* obstructive sleep apnoea syndrome and genes, The Journal of Medicine, September 2 006, Vol. 64, No. 8 280-289
  7. Peppard PE, Young T, Palta M, Skatrud J. Prospective study of the association between sleep-disordered breathing and hypertension. N Engl J Med 2000; 342 : 1378-84.
  8. Udwadia ZF, Doshi AV, Lonkar SG, Singh CI. Prevalence of sleep-disordered breathing and sleep apnea in middle-aged urban Indian men. Am J Respir Crit Care Med 2004; 169 : 168-73.
  9. Vijayan VK, Patial K. Prevalence of obstructive sleep apnea syndrome (osas) in Delhi, India Chest 2006: slide presentation.
  10. Schwab RJ, Gupta KB, GefterWB, Metzger LJ, Hoffman EA, Pack AI. Upper airway and soft tissue anatomy in normal subjects and patients with sleep-disordered breathing: significance of the lateral pharyngeal walls. Am J Respir Crit Care Med 1995;152:1673–1689.
  11. Haponik EF, Smith PL, Bohlman ME, Allen RP, Goldman SM, Bleecker ER. Computerized tomography in obstructive sleep apnea: correlation of airway size with physiology during sleep and wakefulness. Am Rev Respir Dis 1983;127:221– 226.
  12. Burger CD, Stanson AW, Sheedy PF II, Daniels BK, Shepard JW Jr. Fast-computed tomography evaluation of age-related changes in upper airway structure and function in normal men. Am Rev Respir Dis 1992;145:846–852.
  13. Isono S, Remmers JE, Tanaka A, Sho Y, Sato J, Nishino T. Anatomy of pharynx in patients with obstructive sleep apnea and in normal subjects. J Appl Physiol 1997;82:1319– 1326.
  14. Riha RL, Brander P, Vennelle M, McArdle N, Kerr SM, Anderson NH, et al. The relationship between obesity and craniofacial structure in obstructive sleep apnea. Chest 1995; 108: 375-81.
  15. Young T, Shahar E, Nieto FJ, Redline S, Newman AB, Gottlieb DJ, et al. Predictors of sleep-disordered breathing in community dwelling adults: the sleep heart health study. Arch Intern Med 2002; 162: 893-900.
  16. Young T, Skatrud J, Peppard PE. Risk factors for obstructive sleep apnea in adults. JAMA 2004; 291: 2013-6.
  17. Schwab RJ. Sex differences and sleep apnoea. Thorax 1999; 54: 284-5.
  18. Young T, Palta M, Dempsey J, Skatrud J, Weber S, Badr S. The occurrence of sleep-disordered breathing among middle-aged adults. N Engl J Med 1993;328:1230–1235
  19. Malhotra A, White DP. Obstructive sleep apnoea. Lancet 2002; 360:237–245
  20. Alan R. Schwartz1, Susheel P. Patil1, Alison M. Laffan1, Vsevolod Polotsky1, Hartmut Schneider1, and Philip L. Smith1 Obesity and Obstructive Sleep Apnea Pathogenic Mechanisms and Therapeutic Approaches Proc. Am Thorac Soc Vol 5. pp 185–192, 2008
  21. Abdominal Fat and Sleep Apnea. The chicken or the egg? GIORA PILLAR, MD, PHD 1,2 NAIM SHEHADEH, MD 2,3 Diabetes Care 31 (Suppl. 2):S303–S309, 2008
  22. Somers VK, Dyken ME, Clary MP, Abboud FM. Sympathetic neural mechanisms in obstructive sleep apnea. J Clin Invest 96:1897–1904, 1995.
  23. Shamsuzzaman AS, Gersh BJ, Somers VK. Obstructive sleep apnea: implications for cardiac and vascular disease. JAMA 290:1906–1914, 2003.
  24. Hahn BH, Grossman J, Chen W, McMahon M. The pathogenesis of atherosclerosis in autoimmune rheumatic diseases: roles of inflammation and dyslipidemia. J Autoimmun 28:69–75, 2007.
  25. Minoguchi K, Tazaki T, Yokoe T, Minoguchi H, Watanabe Y, Yamamoto M, Adachi M. Elevated production of tumor necrosis factora by monocytes in patients with obstructive sleep apnea syndrome. Chest 126:1473–1479, 2004.
  26. Hartmann G, Tschop M, Fischer R, Bidlingmaier C, Riepl R, Tschop K, Hautmann H, Endres S, Toepfer M. High altitude increases circulating interleukin-6, interleukin-1 receptor antagonist and Creactive protein. Cytokine 12:246–252, 2000.
  27. Patruno V, Aiolfi S, Costantino G, Murgia R, Selmi C, Malliani A, Montano N. Fixed and autoadjusting continuous positive airway pressure treatments are not similar in reducing cardiovascular risk factors in patients with obstructive sleep apnea. Chest 131:1393–1399, 2007.
  28. Vgontzas AN, Papanicolaou DA, Bixler EO. Elevation of plasma cytokines in disorders of excessive daytime sleepiness: role of sleep disturbance and obesity. J Clin Endocrinol Metab 1997; 82:1313–1316
  29. Vgontzas AN, Papanicolaou DA, Bixler EO. Sleep apnea and daytime sleepiness and fatigue: relation to visceral obesity, insulin resistance, and hypercytokinemia. J Clin Endocrinol Metab 2000; 85:1151–1158
  30. Shamsuzzaman AS, Winnicki M, Lanfranchi P, et al. Elevated C-reactive protein in patients with obstructive sleep apnea. Circulation 2002; 105:2462–2464
  31. Popko K, Gorska E, Wasik M, Stoklosa A, P3ywaczewski R, Winiarska M, Gorecka D, Sliwinski P, Demkow U. Frequency of distribution of leptin receptor gene polymorphism in obstructive sleep apnea patients. J Physiol Pharmacol. 2007 Nov;58 Suppl 5(Pt 2):551-61.
  32. Piérola J, Barceló A, de la Peña M, Barbé F, Soriano JB, Sánchez Armengol A, Martínez C, Agustí A. beta3- Adrenergic receptor Trp64Arg polymorphism and increased body mass index in sleep apnoea. Eur Respir J. 2007 Oct;30(4):743-7.
  33. Patel SR, Larkin EK, Mignot E, Lin L, Redline S. The association of angiotensin converting enzyme (ACE) polymorphisms with sleep apnea and hypertension. Sleep 2007 Apr 1;30(4):531-3.
  34. ORL J Otorhinolaryngol Relat Spec. 2007;69(3):190-7. Epub 2007 Jan 30. Association of GABA(B)R1 receptor gene polymorphism with obstructive sleep apnea syndrome. Bayazit YA, Yilmaz M, Kokturk O, Erdal ME, Ciftci T, Gokdogan T, Kemaloglu Y, Ileri F.
  35. Liu HG, Guan P, Lin M, Xu YJ, Zhang ZX. The relationship between tumor necrosis factor-alpha gene promoter polymorphism and obstructive sleep apnea-hypopnea syndrome Zhonghua Jie He He Hu Xi Za Zhi. 2006 Sep; 29(9):596-9..
  36. Riha RL, Brander P, Vennelle M, McArdle N, Kerr SM, Anderson NH, Douglas NJ. Tumour necrosis factor-alpha (-308) gene polymorphism in obstructive sleep apnoeahypopnoea syndrome. Eur Respir J. 2005 Oct;26(4): 673-8.
  37. Bayazit YA, Erdal ME, Yilmaz M, Ciftci TU, Soylemez F, Gokdoðan T, Kokturk O, Kemaloglu YK, Koybasioglu A. Insulin receptor substrate gene polymorphism is associated with obstructive sleep apnea syndrome in men. Laryngoscope. 2006 Nov;116(11):1962-5.
  38. Bayazit YA, Yilmaz M, Ciftci T, Erdal E, Kokturk O, Gokdogan T, Kemaloglu YK, Inal E. Association of the - 1438G/A polymorphism of the 5-HT2A receptor gene with obstructive sleep apnea syndrome. ORL J Otorhinolaryngol Relat Spec. 2006;68(3):123-8. Epub 2006 Jan 30.
  39. Strohl KP, Saunders NA, Feldman NT, Hallett M. Obstructive sleep apnea in family members. N Engl J Med 1978; 299:969–973.
  40. Mathur R, Douglas NJ. Family studies in patients with the sleep apnea–hypopnea syndrome. Ann Intern Med 1995;122:174–178.
  41. Pillar G, Lavie P. Assessment of the role of inheritance in sleep apnea syndrome. Am J Respir Crit Care Med 1995;151:688–691.
  42. Redline S, Tishler PV, Tosteson TD, Williamson J, Kump K, Browner I, Ferrette V, Krejci P. The familial aggregation of obstructive sleep apnea. Am J Respir Crit Care Med 1995;151:682–687.
  43. Larkin EK, Patel SR, Redline S, Mignot E, Elston RC, Hallmayer J. Apolipoprotein E and obstructive sleep apnea: evaluating whether a candidate gene explains a linkage peak. Genet Epidemiol 2006;30: 101–110.
  44. Palmer LJ, Buxbaum SG, Larkin E, Patel SR, Elston RC, Tishler PV, Redline S. A whole-genome scan for obstructive sleep apnea & obesity. Am J Hum Genet 2003;72:340-350.
  45. Palmer LJ, Buxbaum SG, Larkin EK, Patel SR, Elston RC, Tishler PV, Redline S. Whole genome scan for obstructive sleep apnea and obesity in African-American families. Am J Respir Crit Care Med 2004;169:1314–1321.
  46. Schwab RJ, Pasirstein M, Kaplan L, Pierson R, Mackley A, Hachadoorian R, Arens R, Maislin G, Pack AI. Family aggregation of upper airway soft tissue structures in normal subjects and patients with sleep apnea. Am J Respir Crit Care Med 2006;173:453–463.
  47. Redline S, Leitner J, Arnold J, Tishler PV, Altose MD. Ventilatorycontrol abnormalities in familial sleep apnea. Am J Respir Crit Care Med 1997;156:155–160.
  48. Pillar G, Schnall RP, Peled N, Oliven A, Lavie P. Impaired respiratory response to resistive loading during sleep in healthy offspring of patients with obstructive sleep apnea. Am J Respir Crit Care Med 1997;155:1602–1608.
  49. Levent Öztuürk, MD; Murat Ünal, MD; Lülüfer Tamer, PhD; Firuz Ç elikog¡ lu, MD The Association of the Severity of Obstructive Sleep Apnea With Plasma Leptin Levels. Arch Otolaryngol Head Neck Surg. 2003;129:538-540
  50. Ulukavak Ciftci T, Kokturk O, Bukan N, et al. Leptin and ghrelin levels in patients with obstructive sleep apnea syndrome. Respiration 2005; 72:395–401
  51. Russell CD, Ricci MR, Brolin RE, Magill E, Fried SK. Regulation of the leptin content of obese human adipose tissue. Am J Pkysiol Endocrinol Metab 2001; 280: E399- E404.
  52. Maffei M, Halaas J, Ravussin E et al. Leptin levels in human and rodent: measurements of plasma leptin and OH RNA in obese and weight reduced subjects. Nat Med 1995; 1: 1155-1161).
  53. Considine R, Shinha MK, Heiman ML et al. Serum immunoreactive-leptin concentrations in normal-weight and obese humans. N Engl J Med 1996; 334: 292-295.
  54. Hatipog¢ lu Umur, Rubinstein Israel Inflammation and Obstructive Sleep Apnea Syndrome Pathogenesis : A Working Hypothesis. Respiration 2003;70:665–671
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.