Skip to main content
SpringerLink
Log in
SpringerLink
Log in

The genetic basis for obstructive sleep apnea: what role for variation in respiratory control?

  • Chapter
Genetic Basis for Respiratory Control Disorders

  • 456 Accesses

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. Nat Genet 12: 130-136

    Google Scholar 

  2. Allen AM (1998) Angiotensin AT1 receptor-mediated excitation of rat carotid body chemoreceptor afferent activity. J Physiol 510: 773-781

    PubMed  CAS  Google Scholar 

  3. Altmuller J, Palmer LJ, Fischer G, Scherb H, Wjst M (2001) Genomewide scans of complex human diseases: true linkage is hard to find. Am J Hum Genet 69: 936-950

    PubMed  CAS  Google Scholar 

  4. Amiel J, Salomon R, Attie T, Pelet A, Trang H, Mokhtari M, Laudier B, de Pontual L, Gener B, Trochet D, Etchevers H, Rau P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S (1998) Mutations of the RET-GDNF signaling pathway in Ondine’s curse. Am J Hum Genet 62: 715-717

    PubMed  CAS  Google Scholar 

  5. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23: 185-188

    PubMed  CAS  Google Scholar 

  6. Ancoli-Israel S, Kripke DR, Klauber MR, Mason WJ, Fell R, Kaplan O (1991) Sleep-disordered breathing in community dwelling elderly. Sleep 14: 486-495

    PubMed  CAS  Google Scholar 

  7. Appelberg J, Sundstrom G (1997) Ventilatory response to CO2 in patients with snoring, obstructive hypopnoea and obstructive apnoea. Clin Physiol 17: 497-507

    PubMed  CAS  Google Scholar 

  8. Arens R, McDonough JM, Corbin AM, Rubin NK, Carroll ME, Pack AI, Liu J, Udupa KJ (2003) Upper airway size analysis by magnetic resonance imaging of children with obstructive sleep apnea syndrome. Am J Respir Crit Care Med 167: 65-70

    PubMed  Google Scholar 

  9. Arens R, McDonough JM, Costarino AT, Mahboubi S, Tayag-Kier CE, Maislin G, Schwab RJ, Pack AI (2001) Magnetic resonance imaging of the upper airway structure of children with obstructive sleep apnea syndrome. Am J Respir Crit Care Med 164: 698-703

    PubMed  CAS  Google Scholar 

  10. Arkinstall WW, Nirmel K, Klissouras V, Milic-Emili J (1974) Genetic differences in the ventilatory response to inhaled CO2. J Appl Physiol 36: 6-11

    PubMed  CAS  Google Scholar 

  11. Aubert-Tulkens G, Willems B, Veriter C, Coche E, Stanescu DC (1980) Increase in ventilatory response to CO2 following tracheostomy in obstructive sleep apnea. Bull Europ Physiopath Resp 16: 587-593

    CAS  Google Scholar 

  12. Barcelo A, Elorza MA, Barbe F, Santos C, Mayoralas LR, Agusti AG (2001) Angiotensin converting enzyme in patients with sleep apnoea syndrome: plasma activity and gene polymorphisms. Eur Respir J 17: 728-732

    PubMed  CAS  Google Scholar 

  13. Bayazit YA, Yilmaz M, Ciftci T, Erdal E, Kokturk O, Gokdogan T, Kemaloglu YK, Inal E (2006) Association of the -1438G/A polymorphism of the 5-HT2A receptor gene with obstructive sleep apnea syndrome. ORL J Otorhinolaryngol Relat Spec 68: 123-128

    PubMed  CAS  Google Scholar 

  14. Beall C, Strohl K, Blangero J, Williams-Blangero S, Brittenham G, Goldstein M (1997) Quantitative genetic analysis of arterial oxygen saturation in Tibetan highlanders. Hum Biol 69: 597-604

    PubMed  CAS  Google Scholar 

  15. Benlloch E, Cordero P, Morales P, Soler JJ, Macian V (1995) Ventilatory pattern at rest and response to hypercapnic stimulation in patients with obstructive sleep apnea syndrome. Respiration 62: 4-9

    PubMed  CAS  Google Scholar 

  16. Berthon-Jones M, Sullivan CE (1987) Time course of change in ventilatory response to CO2 with long-term CPAP therapy for obstructive sleep apnea. Am Rev Respir Dis 135: 144-147

    PubMed  CAS  Google Scholar 

  17. Bolk S, Angrist M, Schwartz S, Silvestri J, Weese-Mayer D, Chakravarti A (1996) Congenital central hypoventilation syndrome mutation analysis of the receptor tyrosine kinase RET. Am J Med Genet 63: 603-609

    PubMed  CAS  Google Scholar 

  18. Buxbaum SG, Elston RC, Tishler PV, Redline S (2002) Genetics of the apnea hypopnea index in Caucasians and African Americans: I. Segregation analysis. Genet Epidemiol 22: 243-253

    Google Scholar 

  19. Carmelli D, Bliwise DL, Swan GE, Reed T (2001) Genetic factors in self-reported snoring and excessive daytime sleepiness: a twin study. Am J Respir Crit Care Med 164: 949-952

    PubMed  CAS  Google Scholar 

  20. Carmelli D, Colrain IM, Swan GE, Bliwise DL (2004) Genetic and environmental influences in sleep disordered breathing in older male twins. Sleep 27: 917-922

    PubMed  Google Scholar 

  21. Cherniack NS (1981) Respiratory dysrhythmias during sleep. N Engl J Med 305: 325330-

    Google Scholar 

  22. Collins DD, Scoggin CH, Zwillich CW, Weil JV (1978) Hereditary aspects of decreased hypoxic response. J Clin Invest 62: 105-110

    PubMed  CAS  Google Scholar 

  23. Dempsey JA, Skatrud JB (1986) A sleep-induced apneic threshold and its consequences. Am Rev Respir Dis 133: 1163-1170

    PubMed  CAS  Google Scholar 

  24. Dixon J, Hovanes K, Shiang R, Dixon MJ (1997) Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. Hum Mol Genet 6: 727-737

    PubMed  Google Scholar 

  25. Douglas NJ, Luke M, Mathur R (1993) Is the sleep apnoea/hypopnoea syndrome inherited? Thorax 48: 719-721

    Google Scholar 

  26. El Bayadi S, Millman RP, Tishler PV, Rosenberg C, Saliski W, Boucher MA, Redline S (1990) A family study of sleep apnea. Anatomic and physiologic interactions. Chest 98: 554-559

    PubMed  CAS  Google Scholar 

  27. Ferini-Strambi L, Calori G, Oldani A, Della Marca G, Zucconi M, Castronovo V, Gallus G, Smirne S (1995) Snoring in twins. Respir Med 89: 337-340

    PubMed  CAS  Google Scholar 

  28. Fletcher EC, Miller J, Schaaf JW, Fletcher JG (1987) Urinary catecholamines before and after tracheostomy in patients with obstructive sleep apnea and hypertension. Sleep 10: 35-44

    PubMed  CAS  Google Scholar 

  29. Foley DJ, Masaki K, White L, Redline S (2001) Relationship between apolipoprotein E epsilon4 and sleep-disordered breathing at different ages. JAMA 286: 1447-1448

    PubMed  CAS  Google Scholar 

  30. Fuse K, Satoh M, Yokota T, Ohdaira T, Muramatsu Y, Suzuki E, Arakawa M (1999) Regulation of ventilation before and after sleep in patients with obstructive sleep apnoea. Respirology 4: 125-130

    PubMed  CAS  Google Scholar 

  31. Garay SM, Rapoport D, Sorkin B, Epstein H, Feinberg I, Goldring RM (1981) Regulation of ventilation in the obstructive sleep apnea syndrome. Am Rev Respir Dis 124: 451-457

    PubMed  CAS  Google Scholar 

  32. Garcia-Rio F, Pino JM, Ramirez T, Alvaro D, Alonso A, Villasante C, Villamar J (2002) Inspiratory neural drive response to hypoxia adequately estimates peripheral chemosensitivity in OSAHS patients. Eur Respir J 20: 724-732

    PubMed  CAS  Google Scholar 

  33. Gislason T, Johannsson JH, Haraldsson A, Olafsdottir BR, Jonsdottir H, Kong A, Frigge HL, Jonsdottir GM, Hakonarson H, Guleher J, Stefansson K (2002) Familial predisposition and cosegregation analysis of adult obstructive sleep apnea and the sudden infant death syndrome. Am J Respir Crit Care Med 166: 833-838

    PubMed  Google Scholar 

  34. Gottlieb DJ, DeStefano AI, Foley DJ, Mignot E, Redline S, Givelber RJ, Young T (2004) APOE e4 is associated with obstructive sleep apnea/hypopnea: The Sleep Heart Health Study. Neurology 63: 664-668

    PubMed  CAS  Google Scholar 

  35. Greenberg H, Scharf S (1993) Depressed ventilatory load compensation in sleep apnea: Reversal by nasal CPAP. Am Rev Respir Dis 148: 1610-1615

    PubMed  CAS  Google Scholar 

  36. Guilleminault C, Cummiskey J (1982) Progressive improvement of apnea index and ventilatory response to CO2 after tracheostomy in obstructive sleep apnea syndrome. Am Rev Respir Dis 126: 14-20

    PubMed  CAS  Google Scholar 

  37. Guilleminault C, Heldt G, Powell N, Riley R (1986) Small upper airway in near-miss sudden infant death syndrome infants and their families. Lancet 1: 402-407

    PubMed  CAS  Google Scholar 

  38. Guilleminault C, Partinen M, Hollman K, Powell N, Stoohs R (1995) Familial aggregates in obstructive sleep apnea syndrome. Chest 107: 1545-1551

    PubMed  CAS  Google Scholar 

  39. Haxhiu MA, Mack SO, Wilson CG, Feng P, Strohl KP (2003) Sleep networks and the anatomic and physiologic connections with respiratory control. Front Biosci 8: 946-962

    Google Scholar 

  40. Heath AC, Kendler KS, Eaves LJ, Martin N (1990) Evidence for genetic influences on sleep disturbance and sleep pattern in twins. Sleep 13: 318-335

    PubMed  CAS  Google Scholar 

  41. Hedner JA, Wilcox I, Laks L, Grunstein RR, Sullivan CE (1992) A specific and potent pressor effect of hypoxia in patients with sleep apnea. Am Rev Respir Dis 146: 12401245

    Google Scholar 

  42. Holberg CJ, Natrajan S, Cline MG, Quan SF (2000) Familial aggregation and segregation analysis of snoring and symptoms of obstructive sleep apnea. Sleep Breath 4: 21-30

    PubMed  Google Scholar 

  43. Horner RL, Kozar LF, Kimoff RJ, Phillipson EA (1994) Effects of sleep on the tonic drive to respiratory muscle and the threshold for rhythm generation in the dog. J Physiol 474: 525-537

    Google Scholar 

  44. Hudgel DW, Gordon A, Thanakitcharu S, Bruce Eugene N (1998) Instability of ventilatory control in patients with obstructive sleep apnea. Am J Respir Crit Care Med 158: 1142-1149

    PubMed  CAS  Google Scholar 

  45. Ibrahim L, Modarres-Zadeh M, Johnson NL, Mehra R, Redline S (2006) Novel measure of breathing variability at wake-sleep transition predicts sleep-disordered breathing severity. Am J Respir Crit Care Med: A567

    Google Scholar 

  46. Javaheri S, Colangelo G, Corser B, Zahedpour MR (1992) Familial respiratory chemosensitivity does not predict hypercapnia of patients with sleep apnea-hypopnea syndrome. Am Rev Respir Dis 145: 837-840

    PubMed  CAS  Google Scholar 

  47. Jennum P, Hein HO, Suadicani P, Sorensen H, Gyntelberg F (1995) Snoring, family history, and genetic markers in men: the Copenhagen Male Study. Chest 107: 1289-1293

    PubMed  CAS  Google Scholar 

  48. Jones CR, Campbell SS, Zone SE, Cooper F, DeSano A, Murphy PJ, Jones B, Czajkowski L, Ptacek LJ (1999) Familial advanced sleep-phase syndrome: a short-period circadian rhythm variant in humans. Nat Med 5: 1062-1065

    PubMed  CAS  Google Scholar 

  49. Kadotani H, Kadotani T, Young T, Peppard PE, Finn L, Colrain IM, Murphy JM, Mignot E (2001) Association between Apolipoprotein E e4 and sleep-disordered breathing in adults. JAMA 285: 2888-2890

    PubMed  CAS  Google Scholar 

  50. Kaprio J, Koskenvuo M, Partinen M, Telakivi I (1988) A twin study of snoring. Sleep Res 17: 365

    Google Scholar 

  51. Khoo MC, Berry RB (1996) Modeling the interaction between arousal and chemical drive in sleep-disordered breathing. Sleep 19: S167-169

    Google Scholar 

  52. Kobayashi S, Nishimura M, Yamamoto M, Akiyama Y, Kishi F, Kawakami Y (1993) Dyspnea sensation and chemical control of breathing in adult twins. Am Rev Respir Dis 147: 1192-1198

    Google Scholar 

  53. Kunitomo F, Kimura H, Tatsumi K, Okita S, Tojima H, Kuriyama T, Honda Y (1989) Abnormal breathing during sleep and chemical control of breathing during wakefulness in patients with sleep apnea syndrome. Am Rev Respir Dis 139: 164-169

    PubMed  CAS  Google Scholar 

  54. Larkin EK, Patel SR, Elston RC, Redline S (2006a) Linkage analyses of sleep disordered breathing using alternative measures of the Apnea Hypopnea Index (AHI). Am J Respir Crit Care Med: A568

    Google Scholar 

  55. Larkin EK, Patel SR, Redline S, Mignot E, Elston RC, Hallmayer J (2006b) Apolipoprotein E and obstructive sleep apnea: evaluating whether a candidate gene explains a linkage peak. Genet Epidemiol 30: 101-110

    Google Scholar 

  56. Lavie P, Rubin AE (1984) Effects of nasal occlusion on respiration in sleep: evidence of inheritability of sleep apnea prognosis. Acta Otolaryngol 97: 127-130

    PubMed  CAS  Google Scholar 

  57. Leibowitz SF, Hoebel BG (1998) Behavioral neuroscience of obesity. In: Bray GA, Bouchard C, James WPT editors. Handbook of Obesity. New York: Marcel Dekker, Inc., pp 313-358

    Google Scholar 

  58. Li Y, Zhang W, Wang T, Lu H, Wang X, Wang Y (2004) Study on the polymorphism of angiotensin converting enzyme genes and serum angiotensin II level in patients with obstructive sleep apnea hypopnea syndrome accompanied hypertension. Lin Chuang Er Bi Yan Hou Ke Za Zhi 18: 456-459

    PubMed  Google Scholar 

  59. Lin CC (1994) Effect of nasal CPAP on ventilatory drive in normocapnic and hypercapnic patients with obstructive sleep apnoea syndrome. Eur Respir J 7: 2005-2010

    PubMed  CAS  Google Scholar 

  60. 60. Mahamed S, Hanly PJ, Gabor J, Beecroft J, Duffin J (2005) Overnight changes of chemoreflex control in obstructive sleep apnoea patients. Respir Physiol Neurobiol 146: 279-290

    PubMed  Google Scholar 

  61. Marin JM, Carrizo SJ, Vicente E, Agusti AG (2005) Long-term cardiovascular outcomes in men with obstructive sleep apnoea-hypopnoea with or without treatment with continuous positive airway pressure: an observational study. Lancet 365: 1046-1053

    PubMed  Google Scholar 

  62. Marti S, Sampol G, Munoz X, Torres F, Roca A, Lloberes P, Sagales T, Quesada P, Morell F (2002) Mortality in severe sleep apnoea/hypopnoea syndrome patients: impact of treatment. Eur Respir J 20: 1511-1518

    PubMed  CAS  Google Scholar 

  63. Mathur R, Douglas NJ (1994) Relation between sudden infant death syndrome and adult-sleep apnoea/hypopnoea syndrome. Lancet 344: 819-820

    PubMed  CAS  Google Scholar 

  64. Mathur R, Douglas NJ (1995) Family studies in patients with the sleep apnea-hypopnea syndrome. Ann Intern Med 122: 174-178

    PubMed  CAS  Google Scholar 

  65. McNamara F, Sullivan CE (2000) Obstructive sleep apnea in infants: relation to family history of sudden infant death syndrome, apparent life-threatening events, and obstructive sleep apnea. J Pediatr 136: 318-323

    PubMed  CAS  Google Scholar 

  66. McNicholas W, Bowes G, Zamel N, Phillipson E (1984) Impaired detection of added inspiratory resistance in patients with obstructive sleep apnea. Am Rev Respir Dis 129: 4548

    Google Scholar 

  67. Mignot E (2001) A commentary on the neurobiology of the hypocretin/orexin system. Neuropsychopharmacol 25: S5-13

    Google Scholar 

  68. Mitchell RB, Kelly J (2004) Adenotonsillectomy for obstructive sleep apnea in obese children. Otolaryngol Head Neck Surg 131: 104-108

    PubMed  Google Scholar 

  69. Moura SM, Bittencourt LR, Bagnato MC, Lucas SR, Tufik S, Nery LE (2001) Acute effect of nasal continuous positive airway pressure on the ventilatory control of patients with obstructive sleep apnea. Respiration 68: 240-241

    Google Scholar 

  70. Narkiewicz K, Somers VK (1997) The sympathetic nervous system and obstructive sleep apnea: implications for hypertension. J Hypertens 15: 1613-1619

    PubMed  CAS  Google Scholar 

  71. Narkiewicz K, van de Borne PJ, Pesek CA, Dyken ME, Montano N, Somers VK (1999) Selective potentiation of peripheral chemoreflex sensitivity in obstructive sleep apnea. Circulation 99: 1183-1189

    PubMed  CAS  Google Scholar 

  72. Nieto FJ, Young TB, Lind BK, Shahar E, Samet JM, Redline S, et al. (2000) Association of sleep-disordered breathing, sleep apnea, and hypertension in a large community-based study. Sleep Heart Health Study. JAMA 283: 1829-1836

    PubMed  CAS  Google Scholar 

  73. O’Donnell CP, Schaub CD, Haines AS, Berkowitz DE, Tankersley CG, Schwartz AR, Smith PL, Robotham JL, O’Donnell CP (1999) Leptin prevents respiratory depression in obesity. Am J Respir Crit Care Med 159: 1477-1484

    PubMed  CAS  Google Scholar 

  74. Onal E, Burrows DL, Hart RH, Lopata M (1986) Induction of periodic breathing during sleep causes upper airway obstruction in humans. J Appl Physiol 61: 1438-1443

    PubMed  CAS  Google Scholar 

  75. Onal E, Lopata M (1982) Periodic breathing and the pathogenesis of occlusive sleep apneas. Am Rev Respir Dis 126: 676-680

    PubMed  CAS  Google Scholar 

  76. Ordovas JM, Schaefer EJ (2000) Genetic determinants of plasma lipid response to dietary intervention: the role of the APOA1/C3/A4 gene cluster and the APOE gene. Br J Nutr 83: S127-136

    Google Scholar 

  77. Osanai S, Akiba Y, Fujiuchi S, Nakano H, Matsumoto H, Ohsaki Y, Kikuchi K (1999) Depression of peripheral chemosensitivity by a dopaminergic mechanism in patients with obstructive sleep apnoea syndrome. Eur Respir J 13: 418-423

    PubMed  CAS  Google Scholar 

  78. Palmer LJ, Buxbaum SG, Larkin E, Patel SR, Elston RC, Tishler PV, Redline S (2003) A whole-genome scan for obstructive sleep apnea and obesity. Am J Hum Genet 72: 340-350

    PubMed  CAS  Google Scholar 

  79. Palmer LJ, Buxbaum SG, Larkin EK, Elston RC, Tishler PV, Redline S (2002) A genome-wide search for quantitative trait loci underlying obstructive sleep apnea. Am J Respir Crit Care Med 165: A419

    Google Scholar 

  80. Palmer LJ, Buxbaum SG, Larkin EK, Patel SR, Elston RC, Tishler PV, Redline S (2004) Whole genome scan for obstructive sleep apnea and obesity in African-American families. Am J Respir Crit Care Med 169: 1314-1321

    PubMed  Google Scholar 

  81. Patel S, Woods DR, Macleod NJ, Brown A, Patel KR, Montgomery HE, Peacock AJ (2003) Angiotensin-converting enzyme genotype and the ventilatory response to exertional hypoxia. Eur Respir J 22:755-760

    Google Scholar 

  82. Patel SR, Larkin EK, Mignot E, Lin L (2007) The association of Angiotensin Converting Enzyme (ACE) polymorphisms with sleep apnea and hypertension sleep. Sleep 30: 531533

    Google Scholar 

  83. Patel SR, Tishler PV (2007) Familial and genetic factors. In: Kushida CA editor. Obstructive Sleep Apnea: Pathophysiology, Comorbidities, and Consequences New York: Informa Healthcare, in press

    Google Scholar 

  84. Paterson DS, Trachtenberg FL, Thompson EG, Belliveau RA, Beggs AH, Darnall R, Chadwick AE, Krous HF, Kinney HC (2006) Multiple serotonergic brainstem abnormalities in Sudden Infant Death Syndrome. JAMA 296: 2124-2132

    PubMed  CAS  Google Scholar 

  85. Peppard PE, Young T, Palta M, Skatrud J (2000) Prospective study of the association between sleep-disordered breathing and hypertension. N Engl J Med 342: 1378-1384

    PubMed  CAS  Google Scholar 

  86. Phillipson EA, Bowes G, Sullivan CE, Woolf GM (1980) The influence of sleep fragmentation on arousal and ventilatory responses to respiratory stimuli. Sleep 3: 281-288

    PubMed  CAS  Google Scholar 

  87. Pillar G, Lavie P (1995) Assessment of the role of inheritance in sleep apnea syndrome. Am J Respir Crit Care Med 151: 688-691

    PubMed  CAS  Google Scholar 

  88. Pillar G, Schnall RP, Peled N, Oliven A, Lavie P (1997) Impaired respiratory response to resistive loading during sleep in healthy offspring of patients with obstructive sleep apnea. Am J Respir Crit Care Med 155: 1602-1608

    PubMed  CAS  Google Scholar 

  89. Radwan L, Maszczyk Z, Koziorowski A, Koziej M, Cieslicki J, Sliwinski P, Zielinski J (1995) Control of breathing in obstructive sleep apnoea and in patients with the overlap syndrome. Eur Respir J 8: 542-545

    PubMed  CAS  Google Scholar 

  90. Rajagopal K, Abbrecht P, Tellis C (1984) Control of breathing in obstructive sleep apnea. Chest 85: 174-180

    PubMed  CAS  Google Scholar 

  91. Redline S, Leitner J, Arnold J, Tishler PV, Altose MD (1997) Ventilatory-control abnormalities in familial sleep apnea. Am J Respir Crit Care Med 156: 155-160

    PubMed  CAS  Google Scholar 

  92. Redline S, Palmer LJ, Elston RC (2004) Genetics of obstructive sleep apnea and related phenotypes. Am J Respir Cell Biol 3: S35-39

    Google Scholar 

  93. Redline S, Tishler PV, Strohl KP (2002) The genetics of the obstructive sleep apnea hypopnea syndrome. In: Pack AI ed. Sleep Apnea: Pathogenesis, Diagnosis, and Treatment. New York: Marcel Dekker, Inc., pp 235-264

    Google Scholar 

  94. Redline S, Tishler PV, Tosteson TD, Williamson J, Kump K, Browner I, Ferrette V, Krejci P (1995) The familial aggregation of obstructive sleep apnea. Am J Respir Crit Care Med 151: 682-687.

    PubMed  CAS  Google Scholar 

  95. Redline S, Tosteson T, Tishler PV, Carskadon MA, Millman RP (1992a) Studies in the genetics of obstructive sleep apnea. Familial aggregation of symptoms associated with sleep-related breathing disturbances. Am Rev Respir Dis 145: 440-444

    Google Scholar 

  96. Redline S, Tosteson T, Tishler PV, Carskadon MA, Millman RP (1992b) Studies in the genetics of obstructive sleep apnea. Familial aggregation of symptoms associated with sleep-related breathing disturbances. Am Rev Respir Dis 145: 440-444

    Google Scholar 

  97. 97. Rosen CL, Larkin EK, Kirchner HL, Emancipator JL, Bivins SF, Surovec SA, Martin RJ, Redline S (2003) Prevalence and risk factors for sleep-disordered breathing in 8- to 11-year-old children: association with race and prematurity. J Pediatr 142: 383-389

    Google Scholar 

  98. Sakai K, Takada T, Nakayama H, Kubota Y, Nakamata M, Satoh M, Otaki S, Kuizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamanoto W, Nakamura T, Hayasaka K (2005) Serotonin-2A and 2C receptor gene polymorphisms in Japanese patients with obstructive sleep apnea. Intern Med 44: 928-933

    PubMed  CAS  Google Scholar 

  99. Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Susuki E, Akazawa K, Gejyu F (2003) Molecular analysis of congenital central hypoventilation syndrome. Hum Genet 114: 22-26

    PubMed  CAS  Google Scholar 

  100. Satoh M, Hida W, Chonan T, Miki H, Iwase N, Taguchi O, Kituchi Y, Takishima I (1991) Role of hypoxic drive in regulation of postapneic ventilation during sleep in patients with obstructive sleep apnea. Am Rev Resp Dis 143: 481-485

    PubMed  CAS  Google Scholar 

  101. Schiffman PL, Trontell MC, Mazar MF, Edelman NH (1983) Sleep deprivation decreases ventilatory response to CO2 but not load compensation. Chest 84: 695-698

    PubMed  CAS  Google Scholar 

  102. Series F, Cormier Y, Desmeules M, La Forge J (1989) Effects of respiratory drive on upper airways in sleep apnea patients and normal subjects. J Appl Physiol 67: 973-979

    PubMed  CAS  Google Scholar 

  103. Series F, Roy N, Marc I (1994) Effects of sleep deprivation and sleep fragmentation on upper airway collapsibility in normal subjects. Am J Respir Crit Care Med 150: 481-485

    PubMed  CAS  Google Scholar 

  104. Shintani T, Asakura K, Kataura A (1998) The effect of adenotonsillectomy in children with OSA. Int J Pediatr Otorhinolaryngol 44: 51-58

    PubMed  CAS  Google Scholar 

  105. Sin DD, Jones RL, Man GC (2000) Hypercapnic ventilatory response in patients with and without obstructive sleep apnea: do age, gender, obesity, and daytime PaCO2 matter? Chest 117: 454-459

    Google Scholar 

  106. Smart D, Haynes AC, Williams G, Arch JR (2002) Orexins and the treatment of obesity. Eur J Pharmacol 440: 199-212

    PubMed  CAS  Google Scholar 

  107. Spier S, Rivlin J, Rowe RD (1986) Sleep in Pierre Robin syndrome. Chest 90:711-715

    Google Scholar 

  108. Stradling JR, Thomas G, Warley ARH, Williams P, Freeland A (1990) Effect of adenotonsillectomy on nocturnal hypoxaemia, sleep disturbance, and symptoms in snoring children. Lancet 335: 249-253

    PubMed  CAS  Google Scholar 

  109. Strohl KP, Saunders NA, Feldman NT, Hallett M (1978) Obstructive sleep apnea in family members. N Engl J Med 299: 969-973

    PubMed  CAS  Google Scholar 

  110. Suen JS, Arnold JE, Brooks LJ (1995) Adenotonsillectomy for treatment of obstructive sleep apnea in children. Arch Otolaryngol Head Neck Surg 121: 525-530

    PubMed  CAS  Google Scholar 

  111. Tafil-Klawe M, Thiele A, E., Raschke F, Mayer J, Peter JH, von Wichert W (1991) Peripheral chemoreceptor reflex in obstructive sleep apnea patients: a relationship between ventilatory response to hypoxia and nocturnal bradycardia during apnea events. Pneumologie 45: 309-311

    PubMed  Google Scholar 

  112. Tankersley CG, Kleeberger S, Russ B, Schwartz A, Smith P (1996) Modified control of breathing in genetically obese (ob/ob) mice. J Appl Physiol 81: 716-723

    PubMed  CAS  Google Scholar 

  113. Thomas DA, Swaminathan S, Beardsmore CS, McArdle EK, MacFadyen UM, Goodenough PC, Carpenter R, Simpson H (1993) Comparison of peripheral chemoreceptor responses in monozygotic and dizygotic twin infants. Am Rev Respir Dis 148: 1605-1609

    PubMed  CAS  Google Scholar 

  114. Thomas RJ, Daly RW, Weiss JWS (2005) Low-concentration carbon dioxide is an effective adjunct to positive airway pressure in the treatment of refractory mixed central and obstructive sleep-disordered breathing. Sleep 28: 69-77

    PubMed  Google Scholar 

  115. 115. Tishler PV, Redline S, Ferrette V, Hans MG, Altose MD (1996) The association of sudden unexpected infant death with obstructive sleep apnea. Am J Respir Crit Care Med 153: 1857-1863

    Google Scholar 

  116. Tun Y, Hida W, Okabe S, Kikuchi Y, Kurosawa H, Tabata M, Shirato K (2000) Inspiratory effort sensation to added resistive loading in patients with obstructive sleep apnea. Chest 118: 1332-1338

    PubMed  CAS  Google Scholar 

  117. Valdez BC, Henning D, So RB, Dixon J, Dixon MJ (2004) The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by inter acting with upstream binding factor. Proc Natl Acad Sci USA 101: 10709-10714

    PubMed  CAS  Google Scholar 

  118. Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NH, Zorn I, Gabreels-Festen AW, de Visser M, Bolhuis PA (1992) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 2: 288-291

    PubMed  CAS  Google Scholar 

  119. Veasey SC (2003) Serotonin agonists and antagonists in obstructive sleep apnea: therapeutic potential. Am J Respir Med 2: 21-29

    PubMed  CAS  Google Scholar 

  120. Wellman A, Jordan AS, Malhotra A, Fogel RB, Katz ES, Schory K, Edwards JK, White DP (2004) Ventilatory control and airway anatomy in obstructive sleep apnea. Am J Respir Crit Care Med 170: 1225-1232

    PubMed  Google Scholar 

  121. Wellman A, Malhotra A, Fogel RB, Edwards JK, Schory K, White DP (2003) Respiratory system loop gain in normal men and women measured with proportional-assist ventilation. J Appl Physiol 94: 205-212

    PubMed  Google Scholar 

  122. White DP, Douglas NJ, Pickett CK, Zwillich CW, Weil JV (1983) Sleep deprivation and the control of ventilation. Am Rev Respir Dis 128: 984-986

    PubMed  CAS  Google Scholar 

  123. Wilcox I, Collins FL, Grunstein RR, Hedner J, Kelly DT, Sullivan CE (1994) Relation ship between chemosensitivity, obesity and blood pressure in obstructive sleep apnoea. Blood Pressure 3: 47-54

    PubMed  CAS  Google Scholar 

  124. Woods DR, Montgomery HE (2001) Angiotesin-converting enzyme and genetics at high altitude. High Alt Med Biol 2: 201-210

    PubMed  CAS  Google Scholar 

  125. Woods DR, Pollard AJ, Collier DJ, Jamshidi Y, Vassiliou V, Hawe E, Humphries SE, Montgomery HE (2002) Insertion/deletion polymorphism of the angiotensin I-converting enzyme gene and arterial oxygen saturation at high altitude. Am J Respir Crit Care Med 166: 362-366

    PubMed  Google Scholar 

  126. Xiao Y, Huang X, Qiu C (1998) Angiotension I converting enzyme gene polymorphism in Chinese patients with obstructive sleep apnea syndrome. Zhonghua Jie He He Hu Xi Za Zhi 21: 489-491

    PubMed  CAS  Google Scholar 

  127. Xiao Y, Huang X, Qiu C, Zhu X, Liu Y (1999) Angiotensin I-converting enzyme gene polymorphism in Chinese patients with obstructive sleep apnea syndrome. Chin Med J (Engl) 112: 701-704

    CAS  Google Scholar 

  128. Ylmaz M, Bayazit YA, Ciftci TU, Erdal ME, Urhan M, Kokturk O, Kemaloglu YK, Inal E (2005) Association of serotonin transporter gene polymorphism with obstructive sleep apnea syndrome. Laryngoscope 115: 832-836

    PubMed  CAS  Google Scholar 

  129. Younes M, Ostrowski M, Thompson W, Leslie C, Shewchuk W (2001) Chemical control stability in patients with obstructive sleep apnea. Am J Respir Crit Care Med 163: 1181-1190

    PubMed  CAS  Google Scholar 

  130. Young T, Peppard PE, Gottlieb DJ (2002) Epidemiology of obstructive sleep apnea: a population health perspective. Am J Respir Crit Care Med 165: 1217-1239

    PubMed  Google Scholar 

  131. Yue WH, Liu PZ, Hao W, Zhang XH, Wang XP, Zhang JS, Zhou XH, Xie YB, Ni M (2005) Association study of sleep apnea syndrome and polymorphisms in the serotonin transporter gene. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22: 533-536

    PubMed  CAS  Google Scholar 

  132. Zhang B, Tanaka H, Shono N, Miura S, Kiyonaga A, Shindo M, Saku K (2003) The I al lele of the angiotensin-converting enzyme gene is associated with an increased percent age of slow-twitch type I fibers in human skeletal muscle. Clin Genet 63: 139-144

    PubMed  CAS  Google Scholar 

  133. Zhang J, Zhao B, Gesongluobu, Sun Y, Wu Y, Pei W, Ye J, Hui R, Liu L (2000) Angio tensin-converting enzyme gene insertion/deletion (I/D) polymorphism in hypertensive

    Google Scholar 

  134. Zhang LQ, Yao WZ, He QY, Wang YZ, Ren B, Lin YP (2004) Association of polymorphisms in the angiotensin system genes with obstructive sleep apnea-hypopnea syndrome. Zhonghua Jie He He Hu Xi Za Zhi 27: 507-510 135.

    PubMed  Google Scholar 

  135. Zoghbi HY, Percy AK, Glaze DG, Butler IJ, Riccardi VM (1985) Reduction of biogenic amine levels in the Rett syndrome. N Engl J Med 313: 921-924

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Case Western Reserve University, Cleveland, OH 44106-6006, U.S.A.

    Susan Redline & Sanjay R. Patel

Authors
  1. Susan Redline
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Sanjay R. Patel
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2008 Springer Science+Business Media, LLC

About this chapter

Cite this chapter

Redline, S., Patel, S.R. (2008). The genetic basis for obstructive sleep apnea: what role for variation in respiratory control?. In: Genetic Basis for Respiratory Control Disorders. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-70765-5_8

Download citation

Publish with us

Policies and ethics

Search

Navigation