Published ahead of print on October 6, 2005, doi:10.1164/rccm.200412-1736OC
Am. J. Respir. Crit. Care Med., Volume 173, Number 4, February 2006, 453-463
A more recent version of this article appeared on February 15, 2006
Submitted on December 23, 2004
Accepted on October 4, 2005
Family Aggregation of Upper Airway Soft Tissue Structures in Normals and Patients with Sleep Apnea
Richard J Schwab1*, Michael Pasirstein2, Laura Kaplan2, Robert Pierson2, Adonna Mackley2, Robert Hachadoorian2, Raanan Arens2, Greg Maislin3, and Allan I Pack3
1 Center for Sleep and Respiratory Neurobiology, University of Pennsylvania Medical Center, Philadelphia, PA, USA; Pulmonary, Allergy and Critical Care Division, University of Pennsylvania Medical Center, Philadelphia, PA, USA; Division of Sleep Medicine, University of Pennsylvania Medical Center, Philadelphia, PA, USA,
2 Center for Sleep and Respiratory Neurobiology, University of Pennsylvania Medical Center, Philadelphia, PA, USA,
3 Center for Sleep and Respiratory Neurobiology, University of Pennsylvania Medical Center, Philadelphia, PA, USA; Division of Sleep Medicine, University of Pennsylvania Medical Center, Philadelphia, PA, USA
* To whom correspondence should be addressed. E-mail: rschwab{at}mail.med.upenn.edu.
Rationale: Sleep apnea is thought to be a genetic disorder. Thus we hypothesized that anatomic risk factors for sleep apnea would demonstrate family aggregation.
Objectives: We utilized volumetric magnetic resonance imaging in a sib pair "quad" design to study the family aggregation of size of upper airway soft tissue structures that are associated with increased risk for obstructive sleep apnea.
Methods: We examined 55 sleep apnea probands (apnea hypopnea index {AHI}: 43.2 ± 26.3 events/hour), 55 proband siblings (AHI: 11.8 ± 16.6 events/hour), 55 controls (AHI: 2.1 ± 1.7 events/hour) and 55 control siblings (AHI: 4.2 ± 4.0 events/hour). The study design utilized exact matching on ethnicity and gender, frequency matching on age, and statistical control for visceral neck fat and craniofacial dimensions.
Measurements and Main Results: The data support our a priori hypothesis that the volume of the important upper airway soft tissue structures is heritable. The volume of the lateral pharyngeal walls (h2 = 36.8%; p = 0.001), tongue (h2 = 36.5%; p = 0.0001) and total soft tissue (h2 = 37.5%; p = 0.0001) demonstrated significant levels of heritability after adjusting for gender, ethnicity, age, visceral neck fat and craniofacial dimensions. In addition, our data indicate that heritability of the upper airway soft tissue structures is found in normals and apneics. Thus, it is not simply a consequence of the prevalence of apnea.
Conclusions: This is the first time family aggregation of size of the upper airway soft tissue structures has been demonstrated.
Key words: family aggregation; magnetic resonance imaging; obstructive sleep apnea; upper airway; genetics
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