PDF herunterladen
Sleep Breath 2000; 04(1): 0021-0030
DOI: 10.1055/s-2000-11534
Copyright © 2000 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

Familial Aggregation and Segregation Analysis of Snoring and Symptoms of Obstructive Sleep Apnea

Catharine J. Holberg, Sunil Natrajan, Martha G. Cline, Stuart F. Quan
  • Presented in part at the Annual Meeting of the American Thoracic Society, May 21, 1997, San Francisco, California Respiratory Sciences and Sleep Disorders Centers, Department of Medicine, University of Arizona College of Medicine, Tucson, Arizona
Weitere Informationen

Publikationsverlauf

Publikationsdatum:
31. Dezember 2000 (online)

    Lizenzen und Reprints

ABSTRACT

To investigate possible modes of inheritance that would explain familial aggregation in obstructive sleep apnea (OSA), familial correlation and segregation analyses were performed on data derived from 584 pedigrees with 2019 cases enrolled in the Tucson Epidemiologic Study of Obstructive Airways Disease (TESOAD) who were at least 10 years of age and who had information pertaining to snoring and daytime sleepiness. Data were obtained from the 9th (May 1984 to October 1985) and 12th (February 1990 to October 1992) surveys of the TESOAD, which is a random, stratified sample of the non-Hispanic Caucasian population of Tucson, Arizona. A snoring phenotype was considered present if it occurred on at least some nights. A ``sleep apnea'' phenotype was constructed if participants snored and experienced daytime sleepiness. Familial correlations for snoring showed significant mother-child and sibling correlations but not father-child correlations. For sleep apnea, significant parent-daughter but not parent-son or sibling correlations were observed. Segregation analyses for snoring with regressive familial effects and sibling, age, and obesity covariates showed no evidence for mendelian transmission. However, additional familial effects were present that suggested phenotype aggregation from polygenic or environmental factors, or both. For the sleep apnea phenotype, similar segregation analyses indicated that mendelian dominant or codominant models were possible. However, the analyses also suggested that a nongenetic model fit the data as well. In addition, consistent with the familial correlations, specific maternal- and sibling-related effects remained even after inclusion of age, gender, and obesity covariates. These data support the concept that inheritable or shared environmental factors contribute to the development of OSA and that maternal components may be more important than paternal ones.

KEYWORD

obstructive sleep apnea - snoring - familial aggregation - genetics

REFERENCES

  • 1 Orr W H, Quan S F. Sleep Apnea Syndromes-A Primer of Diagnosis and Treatment.  Chanhassen, MN: CNS. Inc. 1991
    Suche in Google Scholar
  • 2 Gislason T, Aberg H, Taube A. Snoring and systemic hypertension-an epidemiologic study.  Acta Med Scand . 1987;  222 415-421
    PubMedSuche in Google Scholar
  • 3 Hung J, Whitford E G, Parsons R W. Association of sleep apnoea with myocardial infarction in men.  Lancet . 1990;  336 261-264
    CrossrefPubMedSuche in Google Scholar
  • 4 Malone S, Liu P P, Holloway R, Rutherford R, Zie A, Bradley T D. Obstructive sleep apnoea in patients with dilated cardiomyopathy-effects of continuous positive airway pressure.  Lancet . 1991;  338 1480-1484
    CrossrefPubMedSuche in Google Scholar
  • 5 Palomaki H. Snoring and the risk of ischemic brain infarction.  Stroke . 1991;  22 1021-1025
    PubMedSuche in Google Scholar
  • 6 Partinen M, Guilleminault C. Daytime sleepiness and vascular morbidity at seven-year follow-up in obstructive sleep apnea patients.  Chest . 1988;  94 9-24
    PubMedSuche in Google Scholar
  • 7 Findley L J, Unverzagt M E, Suratt P. Automobile accidents involving patients with obstructive sleep apnea.  Am Rev Respir Dis . 1988;  138 337-340
    PubMedSuche in Google Scholar
  • 8 Young T, Palta M, Dempsey J. The occurrence of sleep-disordered breathing among middle-aged adults.  N Engl J Med . 1993;  328 1230-1235
    CrossrefPubMedSuche in Google Scholar
  • 9 Guilleminault C, Partinen M, Hollman K, Powell N, Stoohs R. Familial aggregates in obstructive sleep apnea syndrome.  Chest . 1995;  107 1545-1551
    CrossrefPubMedSuche in Google Scholar
  • 10 El Bayadi S, Millman R P, Tishler P V. A family study of sleep apnea-anatomic and physiologic interactions.  Chest . 1990;  98 554-559
    PubMedSuche in Google Scholar
  • 11 Mathur R, Douglas N J. Family studies in patients with the sleep apnea-hypopnea syndrome.  Ann Intern Med . 1995;  122 174-178
    PubMedSuche in Google Scholar
  • 12 Wittig R M, Zorick F J, Roehrs T A, Sicklesteel J M, Roth T M. Familial childhood sleep apnea.  Henry Ford Hosp Med J . 1988;  36 13-15
    PubMedSuche in Google Scholar
  • 13 Pillar G, Lavie P. Assessment of the role of inheritance in sleep apnea syndrome.  Am J Respir Crit Care Med . 1995;  151 688-691
    PubMedSuche in Google Scholar
  • 14 Strohl K P, Saunders N A, Feldman N T, Hallet M. Obstructive sleep apnea in family members.  N Engl J Med . 1978;  299 969-973
    PubMedSuche in Google Scholar
  • 15 Manon-Espillat R, Goethe B, Adams N, Newman C, Ruf R. Familial `sleep apnea plus' syndrome: Report of a family.  Neurology . 1988;  38 190-193
    PubMedSuche in Google Scholar
  • 16 Douglas N J, Luke M, Mathus R. Is the sleep apnoea/hypopnea syndrome inherited?.  Thorax . 1993;  48 719-721
    PubMedSuche in Google Scholar
  • 17 Redline S, Tishler P V, Tosteson T D. The familial aggregation of obstructive sleep apnea.  Am J Respir Crit Care Med . 1995;  151 682-687
    PubMedSuche in Google Scholar
  • 18 Carmelli D, Swan G E, Bliwise D L. Prevalence and concordance rates for sleep disordered breathing (SDB) in adult male twins: The National Heart, Lung, and Blood Institute Twin Study.  Sleep Res . 1997;  26 340
    PubMedSuche in Google Scholar
  • 19 Ferini-Strambi L, Calori G, Oldani A. Snoring in twins.  Respir Med . 1995;  89 337-340
    PubMedSuche in Google Scholar
  • 20 Elston R C. Segregation analysis. In: Harris H, Hirschhorn K, eds. Advances in Human Genetics, vol. 2 New York: Plenum, 1980: 83-120
    Suche in Google Scholar
  • 21 Lebowitz M D, Knudson R J, Burrows B. Tucson epidemiologic study of obstructive lung disease. I. Methodology and prevalence of disease.  Am J Epidemiol . 1975;  102 137-152
    PubMedSuche in Google Scholar
  • 22 Bloom J W, Kaltenborn W T, Quan S F. Risk factors in a general population for snoring.  Chest . 1988;  93 678-683
    PubMedSuche in Google Scholar
  • 23 Dodge R, Cline M G, Quan S F. The natural history of insomnia and its relationship to respiratory symptoms.  Arch Intern Med . 1995;  155 1797-1800
    CrossrefPubMedSuche in Google Scholar
  • 24 Bliwise D L, Nekich J C, Dement W C. Relative validity of self-reported snoring as a symptom of sleep apnea in a sleep clinic population.  Chest . 1991;  99 600-608
    PubMedSuche in Google Scholar
  • 25 Redline S, Toteson T, Tishler P V, Carskadon M A, Millman R P. Studies in the genetics of obstructive sleep apnea-familial aggregation of symptoms associated with sleep-related breathing disturbances.  Am Rev Respir Dis . 1992;  145 440-444
    PubMedSuche in Google Scholar
  • 26 Marcus C L. Clinical and pathophysiological aspects of obstructive sleep apnea in children.  Pediatr Pulmonol . 1997;  16(suppl) 123-124
    PubMedSuche in Google Scholar
  • 27 Revicki D A, Israel R G. Relationship between body mass indices and measures of body adiposity.  Am J Public Health . 1986;  76 992-994
    PubMedSuche in Google Scholar
  • 28 S.A.G.E 1997 Statistical Analysis for Genetic Epidemiology. Release 3.1. Computer program package available from the Department of Epidemiology and Biostatistics, Rammelkamp Center for Education and Research, Metro Health Campus, Case Western Reserve University, Cleveland, OH
    Suche in Google Scholar
  • 29 Bonney G E. Regressive logistic models for familial disease and other binary traits.  Biometrics . 1986;  42 611-625
    PubMedSuche in Google Scholar
  • 30 Go R CP, Elston R C, Kaplan E B. Efficiency and robustness of pedigree segregation analysis.  Am J Hum Genet . 1978;  30 28-37
    PubMedSuche in Google Scholar
  • 31 Cannings C, Thompson E A, Skolnick M H. Probability functions on complex pedigrees.  Adv Appl Prob . 1978;  10 26-61
    PubMedSuche in Google Scholar
  • 32 Demenais F M, Laing A E, Bonney G E. Numerical comparisons of two formulations of the logistic regression models with the mixed model in segregation analyses of discrete traits.  Genet Epidemiol . 1992;  9 419-435
    CrossrefPubMedSuche in Google Scholar
  • 33 Karunaratne P M, Elston R C, Loman N, Olsson H, Ranstam J. Analysis of Swedish male breast cancer family data: A simple way to incorporate a common sibling effect.  Genet Epidemiol . 1998;  15 201-212
    CrossrefPubMedSuche in Google Scholar
  • 34 Holberg C J, Morgan W J, Wright A L, Martinez F D. Differences in familial segregation of FEV1 between asthmatic and nonasthmatic families: Role of a maternal component.  Am J Respir Crit Care Med . 1998;  158 162-169
    PubMedSuche in Google Scholar
  • 35 Holberg C J, Elston R C, Halonen M. Am J Respir Crit Care Med .  1996;  154 144-150.
    PubMedSuche in Google Scholar
  • 36 Martinez F D, Holberg C J, Halonen M. Evidence for mendelian inheritance of serum IgE levels in Hispanic and non-Hispanic white families.  Am J Hum Genet . 1994;  55 555-565
    PubMedSuche in Google Scholar
  • 37 Jones R H. Longitudinal Data with Serial Correlation: A State Space Approach. London: Chapman and Hill 1993
    Suche in Google Scholar
  • 38 Wetter D W, Young T B, Bidwell T R, Badr M S, Palta M. Smoking as a risk factor for sleep-disordered breathing.  Arch Intern Med . 1994;  154 2219-2224
    CrossrefPubMedSuche in Google Scholar
  • 39 Kushida C A, Guilleminault C, Mignot E. Genetic and craniofacial dysmorphism in family studies of obstructive sleep apnea.  Sleep Res . 1996;  25 275
    PubMedSuche in Google Scholar
  • 40 Redline S, Tishler P V, Hans M G. Racial differences in sleep-disordered breathing in African-Americans and Caucasians.  Am J Respir Crit Care Med . 1997;  155 186-192
    PubMedSuche in Google Scholar
  • 41 Yoshizawa T, Akashiba T, Kurashima K, Otsuka K, Horie T. Genetics and obstructive sleep apnea syndrome: A study of human leukocyte antigen (HLA) typing.  Intern Med . 1993;  32 94-97
    PubMedSuche in Google Scholar
  • 42 Redline S, Leithner J, Arnold J, Tishler P V, Altose M D. Ventilatory-control abnormalities in familial sleep apnea.  Am J Respir Crit Care Med . 1997;  156 155-160
    PubMedSuche in Google Scholar
  • 43 Burns T L, Moll P P, Lauer R M. Genetic models of human obesity-family studies.  Crit Rev Food Sci Nutr . 1993;  33 339-343
    PubMedSuche in Google Scholar
  • 44 Palta M, Prineas R J, Berman R, Hannan P. Comparison of self-reported and measured height and weight.  Am J Epidemiol . 1982;  115 223-230.
    PubMedSuche in Google Scholar
  • 45 Kapuniai L E, Andrew D J, Crowell D H, Pearce J W. Identifying sleep apnea from self reports.  Sleep . 1988;  11 43-436
    PubMedSuche in Google Scholar
  • 46 Lindberg E, Janson C, Svardsudd K. Increased mortality among sleep snorers: A prospective population based study.  Thorax . 1998;  53 627-628
    PubMedSuche in Google Scholar