• Fabiola G Rizzatti, Diego R Mazzotti, Jesse Mindel, Greg Maislin, Brendan T Keenan, Lia Bittencourt, Ning-Hung Chen, Peter A Cistulli, Nigel McArdle, Frances M Pack, Bhajan Singh, Kate Sutherland, Bryndis Benediktsdottir, Ingo Fietze, Thorarinn Gislason, Diane C Lim, Thomas Penzel, Bernd Sanner, Fang Han, Qing Yun Li, Richard Schwab, Sergio Tufik, Allan I Pack, and Ulysses J Magalang.
• Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil; Departamento de Medicina, Universidade Federal de São Carlos, São Paulo, Brazil.
• Chest. 2020 Sep 1; 158 (3): 1187-1197.

BackgroundExtreme phenotypes of OSA have not been systematically defined.Research QuestionThis 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.Study Design And MethodsIn 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.ResultsThis 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/m2), and predominantly female (71.1%). Extreme controls were older (53.8 ± 14.1 years), obese (34.0 ± 8.1 kg/m2), 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.InterpretationThis 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.Copyright © 2020 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

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