The phenotype and genotype of adult obstructive sleep apnoea/hypopnoea syndrome

European Respiratory Journal

Volumn 33, Issue 3, 2009, Pages 646-655

  Riha, R L ^a   Gislasson, T ^b   Diefenbach, K ^c  

^a ROYAL INFIRMARY OF EDINBURGH   (United Kingdom)

^b LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Gene polymorphisms; Genetics; Genotype; Phenotype; Sleep apnoea

Indexed keywords

ARTICLE; CRANIOFACIAL MALFORMATION; DNA POLYMORPHISM; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; HYPERTENSION; INSULIN RESISTANCE; MORBIDITY; MORTALITY; NONHUMAN; OBESITY; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; SLEEP APNEA SYNDROME; UPPER RESPIRATORY TRACT;

ADULT; ANIMALS; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; FEMALE; GENOTYPE; HUMANS; HYPERTENSION; INSULIN RESISTANCE; MALE; PHENOTYPE; POLYMORPHISM, GENETIC; SLEEP APNEA SYNDROMES; SLEEP APNEA, OBSTRUCTIVE; SYNDROME;

EID: 59649120824     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00151008     Document Type: Article

References (102)

1. 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.
2. Bearpark H, Elliott L, Grunstein R, et al. Snoring and sleep apnea. A population study in Australian men. Am J Respir Crit Care Med 1995; 151: 1459-1465.
3. Ancoli-Israel S, Kripke DF, Mason W, Kaplan OJ. Sleep apnea and periodic movements in an aging sample. J Gerontol 1985; 40: 419-425.
4. Durán J, Esnaola S, Rubio R, Iztueta A. Obstructive sleep apnea-hypopnea and related clinical features in a population-based sample of subjects aged 30 to 70 yr. Am J Respir Crit Care Med 2001; 163: 685-689.
5. Bixler EO, Vgontzas AN, Ten Have T, Tyson K, Kales A. Effects of age on sleep apnea in men: I. Prevalence and severity. Am J Respir Crit Care Med 1998; 157: 144-148.
6. Faccenda JF, MacKay TW, Boon NA, Douglas NJ. Randomized placebo-controlled trial of continuous positive airway pressure on blood pressure in the sleep apnea-hypopoea syndrome. Am J Respir Crit Care Med 2001; 163: 344-348.
7. Pepperell JC, Ramdassingh-Dow S, Crosthwaite N, et al. Ambulatory blood pressure after therapeutic and subtherapeutic nasal continuous positive airway pressure for obstructive sleep apnoea: a randomised parallel trial. Lancet 2002; 359: 204-210.
8. Shahar E, Whitney CW, Redline S, et al. Sleep-disordered breathing and cardiovascular disease: cross-sectional results of the Sleep Heart Health Study. Am J Respir Crit Care Med 2001; 163: 19-25.
9. Marin JM, Carrizo SJ, Vicente E, Augusti AG. Long-term cardiovascular outcomes in men with obstructive sleep apnoea-hypopnoea with or without treatment with continuous positive airway pressure: an observational study. Lancet 2005; 365: 1046-1053.
10. 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: 1378-1384.
11. Strohl KP, Redline S. Recognition of obstructive sleep apnea. Am J Respir Crit Care Med 1996; 154: 279-289.
12. Davies RJ, Stradling JR. The relationship between neck circumference, radiographic pharyngeal anatomy, and the obstructive sleep apnoea syndrome. Eur Respir J 1990; 3: 509-514.
13. Pillar G, Shehadeh N. Abdominal fat and sleep apnea: the chicken or the egg? Diabetes Care 2008; 31: Suppl. 2, S303-S309.
14. Guilleminault C, Quera-Salva MA, Partinen M, Jamieson A. Women and the obstructive sleep apnea syndrome. Chest 1988; 93: 104-109.
15. Lowe AA, Santamaria JD, Fleetham JA, Price C. Facial morphology and obstructive sleep apnea. Am J Orthod Dentofacial Orthop 1986; 90: 484-491.
16. Mathur R, Douglas NJ. Family studies in patients with the sleep apnea-hypopnea syndrome. Ann Intern Med 1995; 122: 174-178.
17. Scanlan MF, Roebuck T, Little PJ, Redman JR, Naughton MT. Effect of moderate alcohol upon obstructive sleep apnoea. Eur Respir J 2000; 16: 909-913.
18. Wetter DW, Young TB, Bidwell TR, Badr MS, Palta M. Smoking as a risk factor for sleep-disordered breathing. Arch Intern Med 1994; 10; 154: 2219-2224.
19. Lavie P, Fischel N, Zomer J, Eliaschar I. The effects of partial and complete mechanical occlusion of the nasal passages on sleep structure and breathing in sleep. Acta Otolaryngol 1983; 95: 161-166.
20. Redline S, Tishler PV. The genetics of sleep apnea. Sleep Med Rev 2000; 4: 583-602.
21. Ali NJ, Pitson DJ, Stradling JR. Snoring, sleep disturbance, and behaviour in 4-5 year olds. Arch Dis Child 1993; 68: 360-366.
22. Amin RS, Kimball TR, Bean JA, et al. Left ventricular hypertrophy and abnormal ventricular geometry in children and adolescents with obstructive sleep apnea. Am J Respir Crit Care Med 2002; 15;165: 1395-1399.
23. Kheirandish L, Gozal D. Neurocognitive dysfunction in children with sleep disorders. Dev Sci 2006; 9: 388-399.
24. de la Eva RC, Baur LA, Donaghue KC, Waters KA. Metabolic correlates with obstructive sleep apnea in obese subjects. J Pediatr 2002; 140: 654-659.
25. Kalra M, Chakraborty R. Genetic susceptibility to obstructive sleep apnea in the obese child. Sleep Med 2007; 8: 169-175.
26. Gozal D. Congenital central hypoventilation syndrome: an update. Pediatr Pulmonol 1998; 26: 273-282.
27. Pendlebury ST, Pépin JL, Veale D, Lévy P. Natural evolution of moderate sleep apnoea syndrome: significant progression over a mean of 17 months. Thorax 1997; 52: 872-878.
28. Sforza E, Addati G, Cirignotta F, Lugaresi E. Natural evolution of sleep apnoea syndrome: a five year longitudinal study. Eur Respir J 1994; 7: 1765-1770.
29. Arens R, Marcus CL. Pathophysiology of upper airway obstruction: a developmental perspective. Sleep 2004; 1;27: 997-1019.
30. Malhotra A, Huang Y, Fogel R, et al. Aging influences on pharyngeal anatomy and physiology: the predisposition to pharyngeal collapse. Am J Med 2006; 119: 72.
31. Behan M, Brownfield MS. Age-related changes in serotonin in the hypoglossal nucleus of rat: implications for sleep-disordered breathing. Neurosci Lett 1999; 28;267: 133-136.
32. Riha RL, Brander P, Vennelle M, Douglas NJ. A cephalometric comparison of patients with the sleep apnea/hypopnea syndrome and their siblings. Sleep 2005; 1; 28: 315-320.
33. Pack AI, Silage DA, Millman RP, Knight H, Shore ET, Chung DC. Spectral analysis of ventilation in elderly subjects awake and asleep. J Appl Physiol 1988; 64: 1257-1267.
34. Weaver TE, Chasens ER. Continuous positive airway pressure treatment for sleep apnea in older adults. Sleep Med Rev 2007; 11: 99-111.
35. Lavie L, Lavie P. Ischemic preconditioning as a possible explanation for the age decline relative mortality in sleep apnea. Med Hypotheses 2006; 66: 1069-1073.
36. Morris AH. Rigorous genotype-phenotype association research depends on scientific rigor at multiple scales of investigation. Crit Care Med 2008; 36: 2956-2958.
37. Ernande B, Dieckmann U. The evolution of phenotypic plasticity in spatially structured environments: implications of intraspecific competition, plasticity costs and environmental characteristics. J Evol Biol 2004; 17: 613-628.
38. American Academy of Sleep Medicine Task Force. Sleep related breathing disorders in adults: recommendations for syndrome definition and measurement techniques in clinical research. Sleep 1999; 22: 667-689.
39. Behrents RG. The biological basis for understanding craniofacial growth during adulthood. Prog Clin Biol Res 1985; 187: 307-319.
40. Lavie P, Rubin AE. Effects of nasal occlusion on respiration in sleep. Evidence of inheritability of sleep apnea proneness. Acta Otolaryngol 1984; 97: 127-130.
41. Thesleff I. The genetic basis of normal and abnormal craniofacial development. Acta Odontol Scand 1998; 56: 321-325.
42. Mina M. Regulation of mandibular growth and morphogenesis. Crit Rev Oral Biol Med 2001; 12: 276-300.
43. Francis-West P, Ladher R, Barlow A, Graveson A. Signalling interactions during facial development. Mech Dev 1998; 75: 3-28.
44. Crummy F, Piper AJ, Naughton MT. Obesity and the lung: 2. Obesity and sleep-disordered breathing. Thorax 2008; 63: 738-746.
45. Kapsimalis F, Varouchakis G, Manousaki A, et al. Association of sleep apnea severity and obesity with insulin resistance, C-reactive protein, and leptin levels in male patients with obstructive sleep apnea. Lung 2008; 186: 209-217.
46. Bouchard C. Genetics of human obesity: recent results from linkage studies. J Nutr 1997; 127: 1887S-1890S.
47. Rankinen T, Zuberi A, Chagnon YC, et al. The human obesity gene map: the 2005 update. Obesity 2006; 14: 529-644.
48. Krueger JM, Obal F Jr, Fang J. Humoral regulation of physiological sleep: cytokines and GHRH. J Sleep Res 1999; 8: Suppl. 1, 53-59.
49. Krueger JM, Majde JA. Humoral links between sleep and the immune system: research issues. Ann N Y Acad Sci 2003; 992: 9-20.
50. Williams A, Scharf SM. Obstructive sleep apnea, cardiovascular disease, and inflammation - is NF-κB the key? Sleep Breath 2007; 11: 69-76.
51. Fenik P, Veasey SC. Pharmacological characterization of serotonergic receptor activity in the hypoglossal nucleus. Am J Respir Crit Care Med 2003; 167: 563-569.
52. Kraiczi H, Hedner J, Dahlö f P, Ejnell H, Carlson J. Effect of serotonin uptake inhibition on breathing during sleep and daytime symptoms in obstructive sleep apnea. Sleep 1999; 22: 61-67.
53. Thomas DA, Swaminathan S, Beardsmore CS, et al. Comparison of peripheral chemoreceptor responses in monozygotic and dizygotic twin infants. Am Rev Respir Dis 1993; 148: 1605-1609.
54. Redline S, Tishler PV, Hans MG, Tosteson TD, Strohl KP, Spry K. Racial differences in sleep-disordered breathing in African-Americans and Caucasians. Am J Respir Crit Care Med 1997; 155: 186-192.
55. Rajagopal KR, Abbrecht PH, Tellis CJ. Control of breathing in obstructive sleep apnea. Chest 1984; 85: 174-180.
56. Javaheri S, Colangelo G, Corser B, Zahedpour MR. Familial respiratory chemosensitivity does not predict hypercapnia of patients with sleep apnea-hypopnea syndrome. Am Rev Respir Dis 1992; 145: 837-840.
57. Gold AR, Schwartz AR, Wise RA, Smith PL. Pulmonary function and respiratory chemosensitivity in moderately obese patients with sleep apnea. Chest 1993; 103: 1325-1329.
58. Narkiewicz K, van de Borne PJ, Pesek CA, Dyken ME, Montano N, Somers VK. Selective potentiation of peripheral chemoreflex sensitivity in obstructive sleep apnea. Circulation 1999; 99: 1183-1189.
59. Marcus CL, Gozal D, Arens R, et al. Ventilatory responses during wakefulness in children with obstructive sleep apnea. Am J Respir Crit Care Med 1994; 149: 715-721.
60. Radwan L, Koziorowski A, Maszczyk Z, et al. Respiratory response to inspiratory resistive load changes in patients with obstructive sleep apnoea syndrome. Pneumonol Alergol Pol 2000; 68: 44-56.
61. Ibrahim LH, Patel SR, Modarres M, et al. Measure of ventilatory variability at wake-sleep transition predicts sleep apnea severity. Chest 2008; 134: 73-78.
62. Yaggi HK, Concato J, Kernan WN, Lichtman JH, Brass LM, Mohsenhin V. Obstructive sleep apnea as a risk factor for stroke and death. N Engl J Med 2005; 353: 2034-2041.
63. Ryan S, Nolan GM, Hannigan E, Cunningham S, Taylor C, McNicholas WT. Cardiovascular risk markers in obstructive sleep apnea syndrome and correlation with obesity. Thorax 2007; 62: 509-514.
64. Ryan S, Taylor CT, McNicholas WT. Selective activation of inflammatory pathways by intermittent hypoxia in obstructive sleep apnea syndrome. Circulation 2005; 112: 2660-2667.
65. Riha RL, Brander P, Vennelle M, et al. Tumour necrosis factor-alpha (-308) gene polymorphism in obstructive sleep apnoea-hypopnoea syndrome. Eur Respir J 2005; 26: 673-678.
66. Vgontzas AN, Papanicolaou DA, Bixler EO, Kales A, Tyson K, Chrousos GP. Elevation of plasma cytokines in disorders of excessive daytime sleepiness: role of sleep disturbance and obesity. J Clin Endocrinol Metab 1997; 82: 1313-1316.
67. Vgontzas AN, Papanicolaou DA, Bixler EO, et al. Sleep apnea and daytime sleepiness and fatigue: relation to visceral obesity, insulin resistance, and hypercytokinemia. J Clin Endocrinol Metab 2000; 85: 1151-1158.
68. Wardlaw AJ, Silverman M, Siva R, Pavord ID, Green R. Multi-dimensional phenotyping: towards a new taxonomy for airway disease. Clin Exp Allergy 2005; 35: 1254-1262.
69. Chen D, Wang MW. Development and application of rodent models for type 2 diabetes. Diabetes Obes Metab 2005; 7: 307-317.
70. Richmonds CR, Hudgel DW. Hypoglossal and phrenic motoneuron responses to serotonergic active agents in rats. Respir Physiol 1996; 106: 153-160.
71. Veasey SC, Panckeri KA, Hoffman EA, Pack AI, Hendricks JC. The effects of serotonin antagonists in an animal model of sleep-disordered breathing. Am J Respir Crit Care Med 1996; 153: 776-786.
72. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995; 11: 241-247.
73. Daly AK, Day CP. Candidate gene case-control association studies: advantages and potential pitfalls. Br J Clin Pharmacol 2001; 52: 489-499.
74. The International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007; 449: 851-861.
75. Tabor HK, Risch NJ, Myers RM. Candidate-gene approaches for studying complex genetic traits: practical considerations. Nat Rev Genet 2002; 3: 391-397.
76. Colhoun HM, McKeigue PM, Davey Smith G. Problems of reporting genetic associations with complex outcomes. Lancet 2003; 361: 865-872.
77. Polotsky VY, O'Donnell CP. Genomics of sleep-disordered breathing. Proc Am Thorac Soc 2007; 4: 121-126.
78. Palmer LJ, Buxbaum SG, Larkin E, et al. A whole-genome scan for obstructive sleep apnoea and obesity. Am J Hum Genet 2003; 72: 340-350.
79. Palmer LJ, Buxbaum SG, Larkin EK, et al. Whole genome scan for obstructive sleep apnoea and obesity in African-American families. Am J Respir Crit Care Med 2004; 169: 1314-1321.
80. Zhang J, Zhao B, Gesongluobu, et al. Angiotensin-converting enzyme gene insertion/deletion (I/D) polymorphism in hypertensive patients with different degrees of obstructive sleep apnea. Hypertens Res 2000; 23: 407-411.
81. Lin L, Finn L, Zhang J, Young T, Mignot E. Angiotensin-converting enzyme, sleep-disordered breathing, and hypertension. Am J Respir Crit Care Med 2004; 170: 1349-1353.
82. Patel SR, Larkin EK, Mignot E, Lin L, Redline L. The association of angiotensin converting enzyme (ACE) polymorphisms with sleep apnea and hypertension. Sleep 2007; 30: 531-533.
83. Boström KB, Hedner J, Melander O, et al. Interaction between the angiotensin-converting enzyme gene insertion/deletion polymorphism and obstructive sleep apnoea as a mechanism for hypertension. J Hypertens 2007; 25: 779-783.
84. Li Y, Zhang W, Wang T, Lu H, Wang X, Wang Y. [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 2004; 18: 456-459.
85. Bartels NK, Börgel J, Wieczorek S, et al. Risk factors and myocardial infarction in patients with obstructive sleep apnea: impact of beta2-adrenergic receptor polymorphisms. BMC Med 2007; 5: 1.
86. Piérola J, Barceló A, de la Peña M, et al. beta3-Adrenergic receptor Trp64Arg polymorphism and increased body mass index in sleep apnoea. Eur Respir J 2007; 30: 743-747.
87. Zhang LQ, Yao WZ, He QY, Wang YZ, Ren B, Lin TP. Polymorphisms in the beta2 and beta3 adrenergic receptor genes in obstructive sleep apnea/hypopnea syndrome. Zhonghua Nei Ke Za Zhi 2005; 44: 333-336.
88. Lavie L, Lotan R, Hochberg I, Herer P, Lavie P, Levy AP. Haptoglobin polymorphism is a risk factor for cardiovascular disease in patients with obstructive sleep apnea syndrome. Sleep 2003; 1; 26: 592-595.
89. Bayazit YA, Yilmaz M, Ciftci T, et al. Association of the -1438G/A polymorphism of the 5-HT2A receptor gene with obstructive sleep apnea syndrome. ORL J Otorhinolaryngol Relat Spec 2006; 68: 123-128.
90. Sakai K, Takada T, Nakayama H, et al. Serotonin-2A and 2C receptor gene polymorphisms in Japanese patients with obstructive sleep apnea. Intern Med 2005; 44: 928-933.
91. Ylmaz M, Bayazit YA, Ciftci TU, et al. Association of serotonin transporter gene polymorphism with obstructive sleep apnea syndrome. Laryngoscope 2005; 115: 832-836.
92. Bayazit YA, Yilmaz M, Kokturk O, et al. Association of GABA(B)R1 receptor gene polymorphism with obstructive sleep apnea syndrome. ORL J Otorhinolaryngol Relat Spec 2007; 69: 190-197.
93. Diefenbach K, Kretschmer K, Bauer S, et al. Endothelin-1 gene variant Lys198Asn and plasma endothelin level in obstructive sleep apnea. Cardiology 2008; 112: 62-68.
94. Popko K, Gorska E, Wasik M, et al. Frequency of distribution of leptin receptor gene polymorphism in obstructive sleep apnea patients. J Physiol Pharmacol 2007; 58: Suppl. 5, 551-561.
95. Hanaoka M, Yu X, Urushihata K, Ota M, Fujimoto K, Kubo K. Leptin and leptin receptor gene polymorphisms in obstructive sleep apnea syndrome. Chest 2008; 133: 79-85.
96. Barceló A, Llompart E, Barbé F, Morlá M, Vila M, Agustí AG. Plasminogen activator inhibitor-I (PAI-I) polymorphisms in patientswith obstructive sleep apnoea. Respir Med 2002; 96: 193-196.
97. Saarelainen S, Lehtimäki T, Kallonen E, Laasonen K, Poussa T, Nieminem MM. No relation between apolipoprotein E alleles and obstructive sleep apnea. Clin Genet 1998; 53: 147-148.
98. Foley DJ, Masaki K, White L, Redline S. Relationship between apolipoprotein E ε4 and sleep-disordered breathing at different ages. JAMA 2001; 26; 286: 1447-1448.
99. Kadotani H, Kadotani T, Young T, et al. Association between apolipoprotein E ε4 and sleep-disordered breathing in adults. JAMA 2001; 13; 285: 2888-2890.
100. Gottlieb DJ, DeStefano AL, Foley DJ, et al. APOE ε4 is associated with obstructive sleep apnea/hypopnea: the Sleep Heart Health Study. Neurology 2004; 63: 664-668.
101. Wardlaw AJ, Silverman M, Siva R, Pavord ID, Green R. Multi-dimensional phenotyping: towards a new taxonomy for airway disease. Clin Exp Allergy 2005; 35: 1254-1262.
102. Williams RW. Expression genetics and the phenotype revolution. Mamm Genome 2006; 17: 496-502.