Schwab Richard J, Pasirstein Michael, Kaplan Laura, Pierson Robert, Mackley Adonna, Hachadoorian Robert, Arens Raanan, Maislin Greg, Pack Allan I
Center for Sleep and Respiratory Neurobiology, 893 Maloney Building, University of Pennsylvania Medical Center, 3600 Spruce Street, Philadelphia, PA 19104-4283, USA.
Am J Respir Crit Care Med. 2006 Feb 15;173(4):453-63. doi: 10.1164/rccm.200412-1736OC. Epub 2005 Oct 6.
Sleep apnea is believed to be a genetic disorder. Thus, we hypothesized that anatomic risk factors for sleep apnea would demonstrate family aggregation.
We used volumetric magnetic resonance imaging in a sib pair "quad" design to study the family aggregation of the size of upper airway soft tissue structures that are associated with increased risk for obstructive sleep apnea.
We examined 55 sleep apnea probands (apnea-hypopnea index [AHI]: 43.2 +/- 26.3 events/h), 55 proband siblings (AHI: 11.8 +/- 16.6 events/h), 55 control subjects (AHI: 2.1 +/- 1.7 events/h), and 55 control siblings (AHI: 4.2 +/- 4.0 events/h). The study design used exact matching on ethnicity and sex, frequency matching on age, and statistical control for visceral neck fat and craniofacial dimensions.
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 (h(2) = 36.8%; p = 0.001), tongue (h(2) = 36.5%; p = 0.0001), and total soft tissue (h(2) = 37.5%; p = 0.0001) demonstrated significant levels of heritability after adjusting for sex, 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 normal subjects and patients with apnea. Thus, it is not simply a consequence of the prevalence of apnea.
This is the first time family aggregation of size of the upper airway soft tissue structures has been demonstrated.
睡眠呼吸暂停被认为是一种遗传性疾病。因此，我们假设睡眠呼吸暂停的解剖学危险因素会表现出家族聚集性。
我们采用同胞对“四联”设计的容积磁共振成像来研究与阻塞性睡眠呼吸暂停风险增加相关的上呼吸道软组织结构大小的家族聚集性。
我们检查了55名睡眠呼吸暂停先证者（呼吸暂停低通气指数[AHI]：43.2±26.3次/小时）、55名先证者的同胞（AHI：11.8±16.6次/小时）、55名对照受试者（AHI：2.1±1.7次/小时）和55名对照受试者的同胞（AHI：4.2±4.0次/小时）。研究设计在种族和性别上采用精确匹配，在年龄上采用频率匹配，并对颈部内脏脂肪和颅面尺寸进行统计控制。
数据支持我们的先验假设，即重要的上呼吸道软组织结构的体积是可遗传的。在调整了性别、种族、年龄、颈部内脏脂肪和颅面尺寸后，咽侧壁（h(2)=36.8%；p=0.001）、舌头（h(2)=36.5%；p=0.0001）和总软组织（h(2)=37.5%；p=0.0001）的体积显示出显著的遗传水平。此外，我们的数据表明，上呼吸道软组织结构的遗传性在正常受试者和呼吸暂停患者中都存在。因此，这不仅仅是呼吸暂停患病率的结果。
这是首次证明上呼吸道软组织结构大小的家族聚集性。
