Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil; Departamento de Medicina, Universidade Federal de São Carlos, São Paulo, Brazil.
Center for Sleep and Circadian Neurobiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Chest. 2020 Sep;158(3):1187-1197. doi: 10.1016/j.chest.2020.03.055. Epub 2020 Apr 15.
Extreme phenotypes of OSA have not been systematically defined.
This study developed objective definitions of extreme phenotypes of OSA by using a multivariate approach. The utility of these definitions for identifying characteristics that confer predisposition toward or protection against OSA is shown in a new prospective sample.
In a large international sample, race-specific liability scores were calculated from a weighted logistic regression that included age, sex, and BMI. Extreme cases were defined as individuals with an apnea-hypopnea index (AHI) ≥ 30 events/hour but low likelihood of OSA based on age, sex, and BMI (liability scores > 90th percentile). Similarly, extreme controls were individuals with an AHI < 5 events/hour but high likelihood of OSA (liability scores < 10th percentile). Definitions were applied to a prospective sample from the Sleep Apnea Global Interdisciplinary Consortium, and differences in photography-based craniofacial and intraoral phenotypes were evaluated.
This study included retrospective data from 81,338 individuals. A total of 4,168 extreme cases and 1,432 extreme controls were identified by using liability scores. Extreme cases were younger (43.1 ± 14.7 years), overweight (28.6 ± 6.8 kg/m), and predominantly female (71.1%). Extreme controls were older (53.8 ± 14.1 years), obese (34.0 ± 8.1 kg/m), and predominantly male (65.8%). These objective definitions identified 29 extreme cases and 87 extreme controls among 1,424 Sleep Apnea Global Interdisciplinary Consortium participants with photography-based phenotyping. Comparisons suggest that a greater cervicomental angle increases risk for OSA in the absence of clinical risk factors, and smaller facial widths are protective in the presence of clinical risk factors.
This objective definition can be applied in sleep centers throughout the world to consistently define OSA extreme phenotypes for future studies on genetic, anatomic, and physiologic pathways to OSA.
阻塞性睡眠呼吸暂停（OSA）的极端表型尚未得到系统定义。
本研究通过多元方法，制定了 OSA 极端表型的客观定义。这些定义在新的前瞻性样本中显示出用于识别导致 OSA 易感性或保护的特征的效用。
在一个大型国际样本中，从包括年龄、性别和 BMI 的加权逻辑回归中计算了种族特异性的易感性得分。极端病例被定义为呼吸暂停低通气指数（AHI）≥30 事件/小时但根据年龄、性别和 BMI 发生 OSA 的可能性较低的个体（易感性得分＞第 90 百分位）。同样，极端对照组是 AHI＜5 事件/小时但发生 OSA 的可能性较高的个体（易感性得分＜第 10 百分位）。这些定义应用于睡眠呼吸暂停全球跨学科联盟的前瞻性样本，并评估了基于摄影的颅面和口内表型的差异。
本研究纳入了来自 81338 名个体的回顾性数据。通过使用易感性得分，共确定了 4168 例极端病例和 1432 例极端对照组。极端病例更年轻（43.1±14.7 岁）、超重（28.6±6.8 kg/m）且主要为女性（71.1%）。极端对照组年龄更大（53.8±14.1 岁）、肥胖（34.0±8.1 kg/m）且主要为男性（65.8%）。这些客观定义在睡眠呼吸暂停全球跨学科联盟的 1424 名参与者中确定了 29 例极端病例和 87 例极端对照组，这些参与者具有基于摄影的表型。比较表明，在没有临床危险因素的情况下，更大的颈围角度增加了 OSA 的风险，而在存在临床危险因素的情况下，较小的面部宽度具有保护作用。
这种客观定义可应用于世界各地的睡眠中心，以一致地定义 OSA 极端表型，用于未来关于 OSA 遗传、解剖和生理途径的研究。
