Facial and Intraoral Photographic Traits Related to Sleep Apnea in a Clinical Sample with Genetic Ancestry Analysis

Kate Sutherland; Soriul Kim; Olivia J Veatch; Brendan T Keenan; Lia Bittencourt; Ning-Hung Chen; Þórarinn Gíslason; Fang Han; Niusha Jafari; Qing Yun Li; Diane C Lim; Greg Maislin; Ulysses Magalang; Diego R Mazzotti; Nigel McArdle; Jesse Mindel; Allan I Pack; Thomas Penzel; Bhajan Singh; Andrew Wiemken; Liyue Xu; Yun Sun; Sergio Tufik; Richard J Schwab; Peter A Cistulli

doi:10.1513/annalsats.202207-577oc

Facial and Intraoral Photographic Traits Related to Sleep Apnea in a Clinical Sample with Genetic Ancestry Analysis

Kate Sutherland, Soriul Kim, Olivia J Veatch, Brendan T Keenan, Lia Bittencourt, Ning-Hung Chen, Þórarinn Gíslason, Fang Han, Niusha Jafari, Qing Yun Li, Diane C Lim, Greg Maislin, Ulysses Magalang, Diego R Mazzotti, Nigel McArdle, Jesse Mindel, Allan I Pack, Thomas Penzel, Bhajan Singh, Andrew WiemkenLiyue Xu, Yun Sun, Sergio Tufik, Richard J Schwab, Peter A Cistulli

Faculty of Medicine

University of Iceland

Research output: Contribution to journal › Article › peer-review

Abstract

Rationale: Craniofacial and pharyngeal morphology influences risk for obstructive sleep apnea (OSA). Quantitative photography provides phenotypic information about these anatomical factors and is feasible in large samples. However, whether associations between morphology and OSA severity differ among populations is unknown. Objectives: The aim of this study was to examine this question in a large sample encompassing people from different ancestral backgrounds. Methods: Participants in SAGIC (Sleep Apnea Global Interdisciplinary Consortium) with genotyping data were included (N = 2,393). Associations between photography-based measures and OSA severity were assessed using linear regression, controlling for age, sex, body mass index, and genetic ancestry. Subgroups (on the basis of 1000 Genomes reference populations) were identified: European (EUR), East Asian, American, South Asian, and African (AFR). Interaction tests were used to assess if genetically determined ancestry group modified these relationships. Results: Cluster analysis of genetic ancestry proportions identified four ancestrally defined groups: East Asia (48.3%), EUR (33.6%), admixed (11.7%; 46% EUR, 27% Americas, and 22% AFR), and AFR (6.4%). Multiple anatomical traits were associated with more severe OSA independent of ancestry, including larger cervicomental angle (standardized b [95% confidence interval (CI)] = 0.11 [0.06–0.16]; P, 0.001), mandibular width (standardized b [95% CI] = 0.15 [0.10–0.20]; P, 0.001), and tongue thickness (standardized b [95% CI] = 0.06 [0.02–0.10]; P = 0.001) and smaller airway width (standardized b [95% CI] = 20.08 [20.15 to 20.002]; P = 0.043). Other traits, including maxillary and mandibular depth angles and lower face height, demonstrated different associations with OSA severity on the basis of ancestrally defined subgroups. Conclusions: We confirm that multiple facial and intraoral photographic measurements are associated with OSA severity independent of ancestral background, whereas others differ in their associations among the ancestrally defined subgroups.

Original language	English
Pages (from-to)	880-890
Number of pages	11
Journal	Annals of the American Thoracic Society
Volume	20
Issue number	6
Early online date	13 Feb 2023
DOIs	https://doi.org/10.1513/annalsats.202207-577oc
Publication status	Published - Jun 2023

Bibliographical note

Funding Information: Supported by the Basic Science Research Program through the National Research Foundation of Korea, funded by the Ministry of Education (NRF-2020R1I1A1A01071011), and by the Korea Health Technology R&D Project through the Korea Health Industry Development Institute, funded by Ministry of Health & Welfare grant HI20C0469 (S.K.). Publisher Copyright: Copyright © 2023 by the American Thoracic Society.

Other keywords

craniofacial
digital morphometrics
genetic ancestry
obstructive
sleep apnea

Access to Document

10.1513/annalsats.202207-577oc

Cite this

Sutherland, K., Kim, S., Veatch, O. J., Keenan, B. T., Bittencourt, L., Chen, N.-H., Gíslason, Þ., Han, F., Jafari, N., Li, Q. Y., Lim, D. C., Maislin, G., Magalang, U., Mazzotti, D. R., McArdle, N., Mindel, J., Pack, A. I., Penzel, T., Singh, B., ... Cistulli, P. A. (2023). Facial and Intraoral Photographic Traits Related to Sleep Apnea in a Clinical Sample with Genetic Ancestry Analysis. Annals of the American Thoracic Society, 20(6), 880-890. https://doi.org/10.1513/annalsats.202207-577oc

@article{4d99ad51bfac4a299831ced641a6536f,

title = "Facial and Intraoral Photographic Traits Related to Sleep Apnea in a Clinical Sample with Genetic Ancestry Analysis",

abstract = "Rationale: Craniofacial and pharyngeal morphology influences risk for obstructive sleep apnea (OSA). Quantitative photography provides phenotypic information about these anatomical factors and is feasible in large samples. However, whether associations between morphology and OSA severity differ among populations is unknown. Objectives: The aim of this study was to examine this question in a large sample encompassing people from different ancestral backgrounds. Methods: Participants in SAGIC (Sleep Apnea Global Interdisciplinary Consortium) with genotyping data were included (N = 2,393). Associations between photography-based measures and OSA severity were assessed using linear regression, controlling for age, sex, body mass index, and genetic ancestry. Subgroups (on the basis of 1000 Genomes reference populations) were identified: European (EUR), East Asian, American, South Asian, and African (AFR). Interaction tests were used to assess if genetically determined ancestry group modified these relationships. Results: Cluster analysis of genetic ancestry proportions identified four ancestrally defined groups: East Asia (48.3\%), EUR (33.6\%), admixed (11.7\%; 46\% EUR, 27\% Americas, and 22\% AFR), and AFR (6.4\%). Multiple anatomical traits were associated with more severe OSA independent of ancestry, including larger cervicomental angle (standardized b [95\% confidence interval (CI)] = 0.11 [0.06–0.16]; P, 0.001), mandibular width (standardized b [95\% CI] = 0.15 [0.10–0.20]; P, 0.001), and tongue thickness (standardized b [95\% CI] = 0.06 [0.02–0.10]; P = 0.001) and smaller airway width (standardized b [95\% CI] = 20.08 [20.15 to 20.002]; P = 0.043). Other traits, including maxillary and mandibular depth angles and lower face height, demonstrated different associations with OSA severity on the basis of ancestrally defined subgroups. Conclusions: We confirm that multiple facial and intraoral photographic measurements are associated with OSA severity independent of ancestral background, whereas others differ in their associations among the ancestrally defined subgroups.",

keywords = "craniofacial, digital morphometrics, genetic ancestry, obstructive, sleep apnea",

author = "Kate Sutherland and Soriul Kim and Veatch, \{Olivia J\} and Keenan, \{Brendan T\} and Lia Bittencourt and Ning-Hung Chen and {\TH}{\'o}rarinn G{\'i}slason and Fang Han and Niusha Jafari and Li, \{Qing Yun\} and Lim, \{Diane C\} and Greg Maislin and Ulysses Magalang and Mazzotti, \{Diego R\} and Nigel McArdle and Jesse Mindel and Pack, \{Allan I\} and Thomas Penzel and Bhajan Singh and Andrew Wiemken and Liyue Xu and Yun Sun and Sergio Tufik and Schwab, \{Richard J\} and Cistulli, \{Peter A\}",

note = "Funding Information: Supported by the Basic Science Research Program through the National Research Foundation of Korea, funded by the Ministry of Education (NRF-2020R1I1A1A01071011), and by the Korea Health Technology R\&D Project through the Korea Health Industry Development Institute, funded by Ministry of Health \& Welfare grant HI20C0469 (S.K.). Publisher Copyright: Copyright {\textcopyright} 2023 by the American Thoracic Society.",

year = "2023",

month = jun,

doi = "10.1513/annalsats.202207-577oc",

language = "English",

volume = "20",

pages = "880--890",

journal = "Annals of the American Thoracic Society",

issn = "2325-6621",

publisher = "American Thoracic Society",

number = "6",

}

Sutherland, K, Kim, S, Veatch, OJ, Keenan, BT, Bittencourt, L, Chen, N-H, Gíslason, Þ, Han, F, Jafari, N, Li, QY, Lim, DC, Maislin, G, Magalang, U, Mazzotti, DR, McArdle, N, Mindel, J, Pack, AI, Penzel, T, Singh, B, Wiemken, A, Xu, L, Sun, Y, Tufik, S, Schwab, RJ & Cistulli, PA 2023, 'Facial and Intraoral Photographic Traits Related to Sleep Apnea in a Clinical Sample with Genetic Ancestry Analysis', Annals of the American Thoracic Society, vol. 20, no. 6, pp. 880-890. https://doi.org/10.1513/annalsats.202207-577oc

TY - JOUR

T1 - Facial and Intraoral Photographic Traits Related to Sleep Apnea in a Clinical Sample with Genetic Ancestry Analysis

AU - Sutherland, Kate

AU - Kim, Soriul

AU - Veatch, Olivia J

AU - Keenan, Brendan T

AU - Bittencourt, Lia

AU - Chen, Ning-Hung

AU - Gíslason, Þórarinn

AU - Han, Fang

AU - Jafari, Niusha

AU - Li, Qing Yun

AU - Lim, Diane C

AU - Maislin, Greg

AU - Magalang, Ulysses

AU - Mazzotti, Diego R

AU - McArdle, Nigel

AU - Mindel, Jesse

AU - Pack, Allan I

AU - Penzel, Thomas

AU - Singh, Bhajan

AU - Wiemken, Andrew

AU - Xu, Liyue

AU - Sun, Yun

AU - Tufik, Sergio

AU - Schwab, Richard J

AU - Cistulli, Peter A

N1 - Funding Information: Supported by the Basic Science Research Program through the National Research Foundation of Korea, funded by the Ministry of Education (NRF-2020R1I1A1A01071011), and by the Korea Health Technology R&D Project through the Korea Health Industry Development Institute, funded by Ministry of Health & Welfare grant HI20C0469 (S.K.). Publisher Copyright: Copyright © 2023 by the American Thoracic Society.

PY - 2023/6

Y1 - 2023/6

N2 - Rationale: Craniofacial and pharyngeal morphology influences risk for obstructive sleep apnea (OSA). Quantitative photography provides phenotypic information about these anatomical factors and is feasible in large samples. However, whether associations between morphology and OSA severity differ among populations is unknown. Objectives: The aim of this study was to examine this question in a large sample encompassing people from different ancestral backgrounds. Methods: Participants in SAGIC (Sleep Apnea Global Interdisciplinary Consortium) with genotyping data were included (N = 2,393). Associations between photography-based measures and OSA severity were assessed using linear regression, controlling for age, sex, body mass index, and genetic ancestry. Subgroups (on the basis of 1000 Genomes reference populations) were identified: European (EUR), East Asian, American, South Asian, and African (AFR). Interaction tests were used to assess if genetically determined ancestry group modified these relationships. Results: Cluster analysis of genetic ancestry proportions identified four ancestrally defined groups: East Asia (48.3%), EUR (33.6%), admixed (11.7%; 46% EUR, 27% Americas, and 22% AFR), and AFR (6.4%). Multiple anatomical traits were associated with more severe OSA independent of ancestry, including larger cervicomental angle (standardized b [95% confidence interval (CI)] = 0.11 [0.06–0.16]; P, 0.001), mandibular width (standardized b [95% CI] = 0.15 [0.10–0.20]; P, 0.001), and tongue thickness (standardized b [95% CI] = 0.06 [0.02–0.10]; P = 0.001) and smaller airway width (standardized b [95% CI] = 20.08 [20.15 to 20.002]; P = 0.043). Other traits, including maxillary and mandibular depth angles and lower face height, demonstrated different associations with OSA severity on the basis of ancestrally defined subgroups. Conclusions: We confirm that multiple facial and intraoral photographic measurements are associated with OSA severity independent of ancestral background, whereas others differ in their associations among the ancestrally defined subgroups.

AB - Rationale: Craniofacial and pharyngeal morphology influences risk for obstructive sleep apnea (OSA). Quantitative photography provides phenotypic information about these anatomical factors and is feasible in large samples. However, whether associations between morphology and OSA severity differ among populations is unknown. Objectives: The aim of this study was to examine this question in a large sample encompassing people from different ancestral backgrounds. Methods: Participants in SAGIC (Sleep Apnea Global Interdisciplinary Consortium) with genotyping data were included (N = 2,393). Associations between photography-based measures and OSA severity were assessed using linear regression, controlling for age, sex, body mass index, and genetic ancestry. Subgroups (on the basis of 1000 Genomes reference populations) were identified: European (EUR), East Asian, American, South Asian, and African (AFR). Interaction tests were used to assess if genetically determined ancestry group modified these relationships. Results: Cluster analysis of genetic ancestry proportions identified four ancestrally defined groups: East Asia (48.3%), EUR (33.6%), admixed (11.7%; 46% EUR, 27% Americas, and 22% AFR), and AFR (6.4%). Multiple anatomical traits were associated with more severe OSA independent of ancestry, including larger cervicomental angle (standardized b [95% confidence interval (CI)] = 0.11 [0.06–0.16]; P, 0.001), mandibular width (standardized b [95% CI] = 0.15 [0.10–0.20]; P, 0.001), and tongue thickness (standardized b [95% CI] = 0.06 [0.02–0.10]; P = 0.001) and smaller airway width (standardized b [95% CI] = 20.08 [20.15 to 20.002]; P = 0.043). Other traits, including maxillary and mandibular depth angles and lower face height, demonstrated different associations with OSA severity on the basis of ancestrally defined subgroups. Conclusions: We confirm that multiple facial and intraoral photographic measurements are associated with OSA severity independent of ancestral background, whereas others differ in their associations among the ancestrally defined subgroups.

KW - craniofacial

KW - digital morphometrics

KW - genetic ancestry

KW - obstructive

KW - sleep apnea

UR - https://www.scopus.com/pages/publications/85160970278

U2 - 10.1513/annalsats.202207-577oc

DO - 10.1513/annalsats.202207-577oc

M3 - Article

C2 - 36780658

SN - 2325-6621

VL - 20

SP - 880

EP - 890

JO - Annals of the American Thoracic Society

JF - Annals of the American Thoracic Society

IS - 6

ER -

Facial and Intraoral Photographic Traits Related to Sleep Apnea in a Clinical Sample with Genetic Ancestry Analysis

Abstract

Bibliographical note

Other keywords

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