Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Original Article
  • Published:

Shared genetic basis for obstructive sleep apnea and adiposity measures



Obesity and obstructive sleep apnea each have a substantial genetic basis and commonly coexist in individuals. The degree to which the genetic underpinnings for these disorders overlap has not been previously quantified.


A total of 1802 individuals from 310 families in the Cleveland Family Study underwent home sleep studies as well as standardized assessment of body mass index (BMI) and circumferences at the waist, hip and neck. In 713 participants with laboratory sleep studies, fasting blood samples were assayed for leptin, adiponectin and resistin. Variance component models were used to estimate heritability and genetic correlations.


The heritability of the apnea hypopnea index (AHI) was 0.37±0.04 and 0.33±0.07 for home and laboratory sleep studies, respectively. The genetic correlations between AHI and anthropomorphic adiposity measures ranged from 0.57 to 0.61, suggesting that obesity can explain nearly 40% of the genetic variance in sleep apnea. The magnitude of the genetic correlations between apnea severity and adipokine levels was substantially less than those with anthropomorphic measures, ranging from 0.11 to 0.46. After adjusting for BMI, no significant genetic correlation with apnea severity was observed for any of the other adiposity measures.


Substantial but not complete overlap in genetic bases exists between sleep apnea and anthropomorphic indices of adiposity, and this overlap accounts for more than one-third of the genetic variance in apnea severity. These findings suggest that genetic polymorphisms exist that importantly influence sleep apnea susceptibility through both obesity-dependent and -independent pathways.

This is a preview of subscription content, access via your institution

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others


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

    Article  Google Scholar 

  2. Peppard PE, Young T, Palta M, Dempsey J, Skatrud J . Longitudinal study of moderate weight change and sleep-disordered breathing. JAMA 2000; 284: 3015–3021.

    Article  CAS  Google Scholar 

  3. Patel SR . Shared genetic risk factors for obstructive sleep apnea and obesity. J Appl Physiol 2005; 99: 1600–1606.

    Article  CAS  Google Scholar 

  4. Redline S, Tishler PV, Tosteson TD, Williamson J, Kump K, Browner I et al. The familial aggregation of obstructive sleep apnea. Am J Respir Crit Care Med 1995; 151: 682–687.

    Article  CAS  Google Scholar 

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

    Article  Google Scholar 

  6. Mathur R, Douglas NJ . Family studies in patients with the sleep apnea–hypopnea syndrome. Ann Intern Med 1995; 122: 174–178.

    Article  CAS  Google Scholar 

  7. Gislason T, Johannsson JH, Haraldsson A, Olafsdottir BR, Jonsdottir H, Kong 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: 833–838.

    Article  Google Scholar 

  8. Pillar G, Lavie P . Assessment of the role of inheritance in sleep apnea syndrome. Am J Respir Crit Care Med 1995; 151: 688–691.

    Article  CAS  Google Scholar 

  9. Stunkard AJ, Foch TT, Hrubec Z . A twin study of human obesity. JAMA 1986; 256: 51–54.

    Article  CAS  Google Scholar 

  10. Stunkard AJ, Harris JR, Pedersen NL, McClearn GE . The body-mass index of twins who have been reared apart. N Engl J Med 1990; 322: 1483–1487.

    Article  CAS  Google Scholar 

  11. Davies RJ, Ali NJ, Stradling JR . Neck circumference and other clinical features in the diagnosis of the obstructive sleep apnoea syndrome. Thorax 1992; 47: 101–105.

    Article  CAS  Google Scholar 

  12. Grunstein R, Wilcox I, Yang TS, Gould Y, Hedner J . Snoring and sleep apnoea in men: association with central obesity and hypertension. Int J Obes 1993; 17: 533–540.

    CAS  Google Scholar 

  13. Selby JV, Newman B, Quesenberry Jr CP, Fabsitz RR, King MC, Meaney FJ . Evidence of genetic influence on central body fat in middle-aged twins. Hum Biol 1989; 61: 179–194.

    CAS  PubMed  Google Scholar 

  14. Buxbaum SG, Elston RC, Tishler PV, Redline S . Genetics of the apnea hypopnea index in Caucasians and African Americans: I. segregation analysis. Genet Epidemiol 2002; 22: 243–253.

    Article  Google Scholar 

  15. Redline S, Schluchter MD, Larkin EK, Tishler PV . Predictors of longitudinal change in sleep-disordered breathing in a nonclinic population. Sleep 2003; 26: 703–709.

    Article  Google Scholar 

  16. Palmer LJ, Buxbaum SG, Larkin E, Patel SR, Elston RC, Tishler PV et al. A whole-genome scan for obstructive sleep apnea and obesity. Am J Hum Genet 2003; 72: 340–350.

    Article  CAS  Google Scholar 

  17. Almasy L, Blangero J . Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 1998; 62: 1198–1211.

    Article  CAS  Google Scholar 

  18. Arita Y, Kihara S, Ouchi N, Takahashi M, Maeda K, Miyagawa J et al. Paradoxical decrease of an adipose-specific protein, adiponectin, in obesity. Biochem Biophys Res Commun 1999; 257: 79–83.

    Article  CAS  Google Scholar 

  19. Palmer LJ, Buxbaum SG, Larkin EK, Patel SR, Elston RC, Tishler PV et al. Whole genome scan for obstructive sleep apnea and obesity in African-American families. Am J Respir Crit Care Med 2004; 169: 1314–1321.

    Article  Google Scholar 

  20. Tang W, Hong Y, Province MA, Rich SS, Hopkins PN, Arnett DK et al. Familial clustering for features of the metabolic syndrome: the National Heart, Lung, and Blood Institute (NHLBI) Family Heart Study. Diabetes Care 2006; 29: 631–636.

    Article  Google Scholar 

  21. O'Donnell CP, Schaub CD, Haines AS, Berkowitz DE, Tankersley CG, Schwartz AR et al. Leptin prevents respiratory depression in obesity. Am J Respir Crit Care Med 1999; 159: 1477–1484.

    Article  CAS  Google Scholar 

  22. Menzaghi C, Coco A, Salvemini L, Thompson R, De Cosmo S, Doria A et al. Heritability of serum resistin and its genetic correlation with insulin resistance-related features in nondiabetic Caucasians. J Clin Endocrinol Metab 2006; 91: 2792–2795.

    Article  CAS  Google Scholar 

  23. Comuzzie AG, Hixson JE, Almasy L, Mitchell BD, Mahaney MC, Dyer TD et al. A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. Nat Genet 1997; 15: 273–276.

    Article  CAS  Google Scholar 

  24. Comuzzie AG, Funahashi T, Sonnenberg G, Martin LJ, Jacob HJ, Black AE et al. The genetic basis of plasma variation in adiponectin, a global endophenotype for obesity and the metabolic syndrome. J Clin Endocrinol Metab 2001; 86: 4321–4325.

    Article  CAS  Google Scholar 

  25. Larkin EK, Patel SR, Elston RC, Redline S . Linkage analyses of sleep disordered breathing using alternative measures of the apnea hypopnea index (AHI) (abstract). Proc Am Thorac Soc 2006; 3: A568.

    Article  Google Scholar 

Download references


This study was supported by National Institutes of Health Grants HL081385, HL046380 and M01 RR00080.

Author information

Authors and Affiliations


Corresponding author

Correspondence to S R Patel.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Patel, S., Larkin, E. & Redline, S. Shared genetic basis for obstructive sleep apnea and adiposity measures. Int J Obes 32, 795–800 (2008).

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI:


This article is cited by


Quick links