Obstructive sleep apnoea syndrome and genes

Netherlands Journal of Medicine

Volumn 64, Issue 8, 2006, Pages 280-289

  Kaparianos, A ^a   Sampsonas, F ^a   Karkoulias, K ^a   Spiropoulos, K ^a  

^a UNIVERSITY HOSPITAL OF PATRAS   (Greece)

Author keywords

Genetic susceptibility; OSA; Polymorphism

Indexed keywords

ADRENERGIC RECEPTOR; LEUKOTRIENE RECEPTOR; MONTELUKAST; OREXIN; PROOPIOMELANOCORTIN; SEROTONIN RECEPTOR; TUMOR NECROSIS FACTOR ALPHA;

BODY MASS; BRAIN; BREATHING MUSCLE; CARDIOVASCULAR SYSTEM; CHEMORECEPTOR; CLUSTER ANALYSIS; CRANIOFACIAL MORPHOLOGY; DNA POLYMORPHISM; ETHNIC DIFFERENCE; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; HEREDITY; HUMAN; MAJOR HISTOCOMPATIBILITY COMPLEX; MEDICAL RESEARCH; MUSCLE TONE; OBESITY; PATHOGENESIS; PHENOTYPE; POLYSOMNOGRAPHY; POSITIVE END EXPIRATORY PRESSURE; PREVALENCE; RACE DIFFERENCE; RECEPTOR SENSITIVITY; REM SLEEP; RESPIRATORY FUNCTION; REVIEW; SEGREGATION ANALYSIS; SEX DIFFERENCE; SLEEP APNEA SYNDROME; SLEEP PATTERN; SNORING; VARIANCE;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; PHENOTYPE; POLYMORPHISM, GENETIC; SEVERITY OF ILLNESS INDEX; SLEEP APNEA, OBSTRUCTIVE;

EID: 33749074732     PISSN: 03002977     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (116)

1. Guilleminault C. Clinical features and evaluation of obstructive sleep apnea. In: Kryeger M, Roth T, Dement WC (eds). Principles and practice of sleep medicine. 2nd ed. Philadelphia: WB Saunders, 1994.
2. 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;328:1230-5.
3. Rosen CL, Larkin EK, Kirchner HL, et al. Prevalence and risk factors for sleep-disordered breathing in 8- to 11-year-old children: association with race and prematurity. J Pediatr 2003;142:383-9.
4. Young T, Peppard PE, Gottlieb DJ. Epidemiology of obstructive sleep apnea: a population health perspective. Am J Respir Crit Care Med 2002;165:1217-39.
5. Punjabi NM, Sorkin JD, Katzel LI, Goldberg AP, Schwartz AR, Smith PL. Sleep-disordered breathing and insulin resistance in middle-aged and overweight men. Am J Respir Crit Care Med 2002;165:677-82.
6. Leung RS, Bradley TD. Sleep apnea and cardiovascular disease. Am J Respir Crit Care Med 2001;164:2147-65.
7. Newman AB, Nieto FJ, Guidry U, et al. Relation of sleep-disordered breathing to cardiovascular disease risk factors: the Sleep Heart Health Study. Am J Epidemiol 2001;154:50-9.
8. 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.
9. Taheri S, Mignot E. The genetics of sleep disorders. Lancet Neurology 2002;1:242-50.
10. Redline S, Tishler P. The genetics of sleep apnea. Sleep Medicine Reviews 2003;4:583-602.
11. Redline S, Tosteson T, Boucher MA, Millman RP. Measurement of sleep-related breathing disturbance in epidemiologic studies: Assessment of the validity and reproducibility of a portable monitoring device. Chest 1991;100:1281-6.
12. Strohl KP, Saunders NA, Feldman NT, Hallett M. Obstructive sleep apnea in family members. N Engl J Med 1978;299:969-73.
13. Redline S, Tishler PV, Tosteson TD, et al. The familial aggregation of obstructive sleep apnea. Am J Respir Crit Care Med 1995;151:682-7.
14. Mathur R, Douglas NJ. Family studies in patients with the sleep apnea-hypopnea syndrome. Ann Intern Med 1995;122:174-8.
15. Gislason T, Johannsson JH, Haraldsson A, et al. Familial predisposition and cosegregation analysis of adult obstructive sleep apnea and the sudden infant death syndrome. Am J Respir Crit Care Med 2002;166:833-8.
16. El-Bayadi S, Millman RP, Tishler PV, Rosenberg C, Boucher MA, Redline S. A family study of sleep apnea: anatomic and physiologic interactions. Chest 1990;98: 554-9.
17. Kaprio J, Koskenvuo M, Partinen M, Telakivi I. A twin study of snoring. Sleep Res 1988;17:365.
18. Carmelli D, Bliwise DL, Swan GE, Reed T. Genetic factors in self-reported snoring and excessive daytime sleepiness: a twin study. Am J Respir Crit Care Med 2001;164: 949-52.
19. Redline S, Tosteson T, Tishler PV, Carskadon MA, Millman RP. Familial aggregation of symptoms associated with sleep-related breathing disorders. Am Rev Respir Dis 1992;145:440-4.
20. Jennum P, Hein HO, Suadicani P, Sorensen H, Gyntelberg F. Snoring, family history, and genetic markers in men: The Copenhagen Male Study. Chest 1995;107:1289-93.
21. Guilleminault C, Partinen M, Hollman K, Powell N, Stoohs R. Familial aggregates in obstructive sleep apnea syndrome. Chest 1995;107:1545-51.
22. Pillar G, Lavie P. Assessment of the role of inheritance in sleep apnea syndrome. Am J Respir Crit Care Med 1995;151:688-91.
23. Maes HH, Neale MC, Eaves LJ. Genetic and environmental factors in relative body weight and human adiposity. Behav Genet 1997;27:325-51,
24. Bouchard C. Genetic determinants of regional fat distribution. Hum Reprod 1997;12(suppl 1):1-5.
25. Tishler PV, Redline S, Ferrette V, Hans MG, Altose MD. The association of sudden unexpected infant death with obstructive sleep apnea. Am J Respir Crit Care Med 1996;153:1857-63.
26. Palmer LJ, Buxbaum SG, Larkin EK, et al. Whole Genome Scan for obstructive sleep apnea and obesity in African-American Families. Am J Respir Crit Care Med 2004;169:1314-21.
27. 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 Care Med 1997;155:186-92.
28. Baldwin M, Kolbe J, Troy K, et al. Racial differences in severity of sleep apnea between Maori, Pacific Islanders and Europeans [abstract]. Am J Respir Crit Care Med 1996;153:A357.
29. Luke A, Guo X, Adeyemo AA, et al. Heritability of obesity-elated traits among Nigerians, Jamaicans, and US black people. Int J Obes Relat Metab Disord 2001;25:1034-41.
30. Sanders MH, Redline S. Obstructive sleep apnea/hypopnea syndrome. Curr Treat Options Neurol 1999;4:279-90.
31. Redline S, Tishler PV, Schuchter M, Aylor J, Clark K, Graham G. Risk factors for sleep Disordered breathing in children. Associations with obesity, race, and respiratory problems. Am J Respir Crit Care Med 1999;159:1527-32.
32. Smith PL, Gold AR, Meyers DA, Haponik EF, Bleeker ER. Weight loss in mild to moderately obese patients with obstructive sleep apnea. Ann Int Med 1985;103:850-5.
33. Mortimore IL, Marshall I, Wraith PK, Sellar RJ, Douglas NJ. Neck and total body fat distribution in nonobese and obese patients with sleep apnea compared to that in control subjects. Am J Respir Crit Care Med 1998,157:280-4.
34. Wilcox I, McNamara SG, Collins FL, Grunstein RR, Sullivan CE. "Syndrome Z": the interaction of sleep apnea, vascular risk factors and heart disease. Thorax 1998;53(suppl 3):S25-8.
35. Reaven GM. Diet and syndrome X. Curr Atheroscler Rep 2000;2:503-7.
36. Vgontzas AN, Papanicolaou DA, Bixer EO, et al. Sleep apnea and daytime sleepiness and fatigue: relation to physical obesity, insulin resistance, and hypercytokinemia, J Clin Endocrinol Metab 2000;85:1151-8.
37. Comuzzie A, Hixson J, Almasy L, et al. A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. Nat Genet 1997;15:273-6.
38. Sina M, Hinney A, Ziegler A, et al. Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in melanocortin-4 receptor gene. Am J Hum Genet 1999;65:1501-7.
39. Bray G, Bouchard C. Genetics of human obesity: research directions. FASEB J 1997;11:937-45.
40. Wiesner G, Vaz M, Collier G, et al. Leptin is released from the human brain: influence of adiposity and gender. J Clin Endocrinol Metab 1999;84:2270-4.
41. O'Donnell CP, Schaub CD, Haines AS, et al. Leptin prevents respiratory depression in obesity. Am J Respir Crit Care Med 1999;159:1477-84.
42. Sinton CM, Fitch TE, Gershenfeld HK. The effects of leptin on REM sleep and slow wave delta in rats are reversed by food deprivation. J Sleep Res 1999;8:197-203.
43. Lowe AA, Ozbek MM, Miyamoto K, Pae EK, Fleetham JA. Cephalometric and demographic characteristics of obstructive sleep apnea: an evaluation with partial least squares analysis. Angle Orthod 1997;67:143-53.
44. Bacon WH, Krieger J, Turlot J-C, Stierle JL. Craniofacial characteristics in patients with obstructive sleep apnea syndrome. Cleft Palate J 1988;25:374-8.
45. Guilleminault C, Riley R, Powell N. Obstructive sleep apnea and abnormal cephalometric measurements. Implications for treatment. Chest 1984;86:793-4.
46. Sanford LP, Ormsby I, Gittenberger-de Groot AC, et al. TGF Beta-2 knockout mice have multiple developmental defects that are nonoverlapping with other TGF Beta knockout phenotypes. Development 1997;124:2659-70.
47. Kurihara Y, Kurihara H, Suzuki H, et al. Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature 1994;368:703-10.
48. Lohnes D, Mark M, Mendelsohn C, et al. Function of the retinoic acid receptors (RARs) during development. (I) Craniofacial and skeletal abnormalities in RAR double mutants. Development 1994;120:2723-48.
49. Hollister DW, Godfrey M, Sakai LY, Pyeritz RE. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med 1990;323:152-9.
50. Thompson MD, Comings DE, Abu-Ghalazah R, et al. Variants of the orexin 2/ hcrt2 receptor gene identified in patients with excessive daytime sleepiness and patients with Tourette's syndrome comorbidity. Am J Med Neuropsychiatr Genet 2004;129:69-75.
51. Cherniack NS. Respiratory dysrhythmias during sleep. N Engl J Med 1981;305:324-30.
52. Dempsey JS, Skatrud JB. A sleep-induced apneic threshold and its consequences. Am Rev Respir Dis 1986;133:1163-70.
53. Kawakami Y, Yamamoto H, Yoshikawa T, Shida A. Chemical and behavioral control of breathing in twins. Am Rev Respir Dis 1984;129:703-7.
54. Thomas DA, Swaminathan S, Beardsmore CS, et al. Comparison of peripheral chemoreceptor responses in monozygotic and dizygotic twin infants. Am Rev Respir Dis 1993;148:1605-9.
55. Redline S, Leitner J, Arnold J, Tishler P, Altose M. Ventilatory control abnormalities in familial sleep apnea. Am J Respir Crit Care Med 1997;56:155-60.
56. Pillar G, Schnall RP, Peled N, Oliven A, Lavie P. Impaired respiratory response to resistive loading during sleep in healthy offspring of healthy patients with obstructive sleep apnea. Am J Respir Crit Care Med 1997;155:1602-8.
57. Paton J, Swaminathan S, Sargent C, Keens T. Hypoxic and hypercapnic ventilatory responses in awake children with congenital central hypoventilation syndrome. Am Rev Respir Dis 1989;140:368-72.
58. Sakai T, Wakizaka A, Matsuda H, Nirasawa Y, Yasuo I. Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine - Hirschsprung syndrome. Pediatrics 1998;101:924-26.
59. Amiel J, Salomon R, Attie T, et al. Mutations of the RET-GDNF signaling pathway in Ondine's curse [Letter]. Am J Hum Gen 1998;62:715-7.
60. Croaker GD, Shi E, Simpson E, et al. Congenital central hypoventilation syndrome and Hirschsprung's disease. Arch Dis Child 1998;78:316-22.
61. Durbec P, Marcos-Gutierrez CV, Kilkenny C, et al. GDNF signalling through the Ret receptor tyrosine kinase. Nature 1996;381:789-93.
62. Amiel J, Laudier B, Attie-Bitach T, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 2003;33:459-61 (and appendix).
63. Weese-Mayer DE, Berry-Kravis EM, Zhou L, et al. Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet 2003;123A:267-78.
64. Romeo G, Ronchetto P, Luo Y, et al. Point mutations affecting the tyrosine kinase domain of the RET protooncogene in Hirschsprung's disease. Nature 1994;367:377-8.
65. Bolk S, Angrist M, Schwartz S, Silvestri J, Weese-Mayer D, Chakravarti A. Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. Am J Med Genet 1996;63:603-9.
66. 2 sensitivity. J Auton Nervous Sys 1997;63:137-43.
67. Kuwaki T, Cao W-H, Kurihara Y, et al. Impaired ventilatory responses to hypoxia and hypercapnia in mutant mice deficient in endothelin-1. Am J Physiol 1996;270:R1279-86.
68. Jacquin TD. Reorganization of pontine rhythmogenic neuronal networks in Krox-20 knockout mice. Neuron 1996;17:747-58.
69. 4 and display a severe developmental deficit in control of breathing. J Neurosci 1996;16:5361-71.
70. Tankersley CG, Fitzgerald RS, Levitt RC, Mitzner WA, Ewart SL, Kleeberger SR. Genetic control of differential baseline breathing pattern. J Appl Physiol 1997;82:874-81.
71. Scheuermann BW, Kowalchuk JM, Paterson DH, Cunningham DA. Peripheral chemoreceptor function after carbonic anhydrase inhibition during moderate-intensity exercise. J Appl Physiol 1999;86:1544-51
72. Peyron C, Faraco J, Rogers W, et al. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat Med 2000;6:991-7.
73. Thannickal TC, Moore RY, Nienhuis R, et al. Reduced number of hypocretin neurons in human narcolepsy. Neuron 2000;27:469-74.
74. Chemelli RM, Willie JT, Sinton CM, et al. Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. Cell 1999;98:437-51.
75. Mignot E, Lammers GJ, Ripley B, et al. The role of CSF hypocretin measurement in the diagnosis of narcolepsy and hypersomnia. Arch Neurol (in press).
76. Lin L, Faraco J, Li R, et al. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell 1999;98:365-76.
77. Douse MA, White DP. Serotonergic effects on hypoglossal neural activity and reflex responses. Brain Res 1996;726:213-22.
78. Nishino S, Ripley B, Overeem S, Lammers GJ, Mignot E. Hypocretin (orexin) deficiency in human narcolepsy. Lancet 2000;355:39-40.
79. Bayliss DA, Viana F, Talley EM, Berger AJ. Neuromodulation of hypoglossal motoneurons: cellular and developmental mechanisms. Respir Physiol 1997;110:139-50.
80. Ribeiro-do-Valle LE, Metzler CW, Jacobs BL. Facilitation of masseter EMG and masseteric (jaw-closure) reflex by serotonin in behaving cats. Brain Res 1991;550:197-204.
81. McGinty DJ, Harper RM. Dorsal raphe neurons: depression of firing during sleep in cats. Brain Res 1976;101:569-75.
82. Jelev A, Sood S, Liu H, Nolan P, Horner RL. Microdialysis perfusion of 5-HT into hypoglossal motor nucleus differentially modulates genioglossus activity across natural sleep-wake state in rats. J Physiol 2001;532:467-81.
83. Heym J, Steinfels GF, Jacobs BL. Activity of serotonin-containing neurons in the nucleus raphe pallidus of freely moving cats. Brain Res 1982;251:259-76.
84. Van Lunteren E. Muscles of the pharynx: structural and contractile properties. Ear Nose Throat J 1993;72:27-29,33.
85. Barnes NM, Sharp T. A review of central 5-HT receptors and their function. Neuropharmacology 1999;38:1083-152.
86. Fenik P, Veasey SC. Pharmacological characterization of serotonergic receptor activity in the hypoglossal nucleus. Am J Respir Crit Care Med 2003;167:563-9.
87. Sakai K, Toshinori T, Nakayama H, et al. Serotonin-2A and 2C receptor gene polymorphisms in Japanese patients with obstructive sleep apnea. Int Med 2005;44:928-33.
88. Yilmaz M, Bayazit AY, Ciftci TU, et al. Association of serotonin transporter gene polymorphism with obstructive sleep apnea syndrome. The Laryngoscope 2005;115:832-6.
89. Offenbaecher M, Bondy B, de Jonge S, et al. Possible association of fibromyalgia with a polymorphism in the serotonin transporter gene regulatory region. Arthritis Rheum 1999;42:2482-8.
90. Heils A, Teufel A, Petri S, et al. Allelic variation of human serotonin transporter gene expression. J Neurochem 1996;66:2621-4.
91. Serreti A, Catalano M, Smeraldi E. Serotonin transporter gene is not associated with symptomatology of schizophrenia. Schizophr Res 1999;35:33-9.
92. Nieto F, Young TB, Lind BK, et al. Association of sleep-disordered breathing, sleep apnea, and hypertension in a large community based study. Sleep Heart Health Study. JAMA 2000;283:1829-36.
93. Pillar G. Malhotra A, Fogel R, et al. Airway mechanics and ventilation in response to resistive loading during NREM sleep: The influence of gender. Am J Respir Crit Care Med 2000;162:1627-32.
94. Winkelman JW, James L. Serotonergic antidepressants are associated with REM sleep without atonia. Sleep 2004;27:317-21.
95. Veasey SC. Serotonin agonists and antagonists in obstructive sleep apnea: therapeutic potential. Am J Respir Med 2003;2:21-9.
96. Ogasa T, Ray AD, Michlin CP, et al. Systemic administration of serotonic 2A/2C agonist improves upper airway stability in Zucker rats. Am J Respir Crit Care Med 2004; 170:804-10.
97. Goldbart AD, Goldman JL, Li RC, Brittian KR, Tauman R, Gozal D. Differential Expression of Cysteinyl Leukotriene Receptors 1 and 2 in Tonsils of Children With Obstructive Sleep Apnea Syndrome or Recurrent Infection. Chest 2004;126:13-8.
98. Ebenfelt A, Ivarsson M. Neutrophil migration in tonsils. J Anat 2001;198:497-500.
99. Yoshizawa T, Kurashina K, Sasaki I, et al. Analysis of HLA antigens in patients with obstructive sleep apnea syndrome [Abstract]. Am Rev Respir Dis 1991;143(suppl):A381.
100. Brunetti L, Francavilla R, Miniello VL, et al. influence of HLA antigens and OSAS in childhood: a preliminary report. J Sleep Res 2005;14:157-62.
101. Saarelainen S, Lehtimaki T, Kallonene E, Laasonein K, Poussa T, Neiminen MM. No relation between apolipoprotein E alleles and obstructive sleep apnea. Clin Genet 1998;53:147-8.
102. 4 and sleep disordered breathing in adults. JAMA 2001;285:2888-90.
103. Foley DJ, Masalki K, White L, Redline S. Relationship between lipoprotein E, epsilon 4 and sleep disordered breathing at different ages. JAMA 2001;286:1447-8.
104. Xiao Y, Huang X, Qiu C, Qhu X, Liu Y. Angiotensin 1-converting enzyme gene polymorphism in Chinese patients with obstructive sleep apnea syndrome. Chinese Med J 1999;112:701-4.
105. Barcelo A, Elorza MA, Barbe F, Santos C, Mayoralas LR, Agusti AGN. Angiotensin converting enzyme in patients with sleep apnea syndrome: plasma activity and gene polymorphisms. Eur Respir J 2001;17:728-32.
106. Saarelainen S, Seppala E, Laasonen K, Hasan J. Circulating endothelin-1 in obstructive sleep apnea. Endothelium 1997;5:115-8.
107. Phillips BG, Narkiewicz K, Pesek CA, et al. Effects of obstructive sleep apnea on endothelin-1 and blood pressure. Journal of Hypertension 1999;17:61-6.
108. Jordan W, Reinbacher A, Cohrs S, et al. Obstructive sleep apnea: Plasma endothelin-1 precursor but not endothelin-1 levels are elevated and decline with nasal continuous positive airway pressure. Peptides 2005;1654-60.
109. 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;82:1313-6.
110. Entzian P, Linnemann K, Schlaak M, Zabel P. Obstructive sleep apnea syndrome and circadian rhythms of hormones and cytokines. Am J Respir Crit Care Med 1996;153:1080-6.
111. Chin K, Ohi M, Kita H, et al. Effects of NCPAP therapy on fibrinogen levels in obstructive sleep apnea syndrome. Am J Respir Crit Care Med 1996;153:1972-6.
112. Noguchi T, Chin K, Ohi M, et al. Heat shock protein 72 level decreases during sleep in patients with obstructive sleep apnea syndrome. Am J Respir Crit Care Med 1997;155:1316-22.
113. Goldbart AD, Goldman JL, Veling MC, Gozal D. Leukotriene modifier therapy for mild sleep-disordered breathing in children. Am J Respir Crit Care Med 2005;172:364-70.
114. 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;30:101-10.
115. 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;170:1349-53.
116. De Geus EJC, Posthuma D, Kupper N, et al. A whole genome scan for 24-hour respiration rate: A major locus at 10q26 influences respiration during sleep. Am J Hum Genet 2005;76:100-11.