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Updated: Dec 23, 2025
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Defining Extreme Phenotypes of OSA Across International Sleep Centers
Fabiola G Rizzatti1, Diego R Mazzotti2, Jesse Mindel3
1Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil; Departamento de Medicina, Universidade Federal de São Carlos, São Paulo, Brazil.
Chest
|April 19, 2020
Summary
This study objectively defines extreme obstructive sleep apnea (OSA) phenotypes using a multivariate approach. Findings reveal distinct demographic and craniofacial characteristics associated with OSA predisposition and protection.
Area of Science:
- Sleep Medicine
- Genetics
- Anthropology
Background:
- Extreme phenotypes of obstructive sleep apnea (OSA) lack systematic definition.
- Objective criteria are needed to identify individuals with severe OSA or those unusually protected.
Purpose of the Study:
- To develop objective definitions for extreme obstructive sleep apnea (OSA) phenotypes.
- To assess the utility of these definitions in identifying predisposition or protection against OSA using craniofacial phenotypes.
Main Methods:
- A multivariate approach using race-specific liability scores from weighted logistic regression (age, sex, BMI) was employed.
- Extreme OSA cases (Apnea-Hypopnea Index [AHI] ≥ 30) had low clinical likelihood (liability score > 90th percentile).
- Extreme OSA controls (AHI < 5) had high clinical likelihood (liability score < 10th percentile).
Main Results:
- Retrospective analysis of 81,338 individuals identified 4,168 extreme cases and 1,432 extreme controls.
- Extreme cases were younger, overweight, and predominantly female; extreme controls were older, obese, and predominantly male.
- Prospective phenotyping revealed a greater cervicomental angle increases OSA risk without clinical factors, and smaller facial widths are protective with clinical factors.
Conclusions:
- Objective definitions for extreme OSA phenotypes were successfully developed.
- These definitions can be applied globally in sleep centers for consistent phenotyping.
- The study highlights the role of craniofacial morphology in OSA susceptibility and protection.
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