背景:颅面和咽部形态是阻塞性睡眠呼吸暂停(OSA)的危险因素。定量摄影提供了有关这些解剖危险因素的表型信息,并且在大样本中是可行的。然而,形态学和OSA严重程度之间的关联是否受遗传祖先的影响尚不清楚.
目的:本研究的目的是在包含来自不同祖先背景的人的大样本中检验这个问题。
方法:纳入具有可用基因组数据的睡眠呼吸暂停全球跨学科联盟(SAGIC)队列的参与者(N=2,393)。使用线性回归模型评估了基于摄影的测量与OSA严重程度之间的关联,控制年龄,性别,BMI。统计相互作用测试用于评估遗传确定的祖先(基于1000个基因组参考群体)是否影响解剖结构与OSA严重程度的关系。
结果:遗传祖先比例的聚类分析确定了四个祖先组:东亚(48.3%),欧洲(33.6%),混合(11.7%)和非洲(6.4%)。多个解剖特征与更严重的OSA相关,与祖先无关,包括较大的颈网膜角(标准化β[95CI]=0.11[0.06,0.16],p<0.001),下颌宽度(0.15[0.10,0.20],p<0.001),和舌厚度(0.06[0.02,0.10],p=0.001)和更小的气道宽度(-0.08[-0.15,-0.002])。其他特征,包括上颌和下颌深度角和下面部高度,基于遗传血统,显示出与OSA严重程度的更强/更弱的关联。
结论:我们确认面部和口腔内的多次摄影测量与OSA严重程度相关,而与祖先背景无关。而其他人在他们的协会不同。
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 β [95% confidence interval (CI)] = 0.11 [0.06-0.16]; P < 0.001), mandibular width (standardized β [95% CI] = 0.15 [0.10-0.20]; P < 0.001), and tongue thickness (standardized β [95% CI] = 0.06 [0.02-0.10]; P = 0.001) and smaller airway width (standardized β [95% CI] = -0.08 [-0.15 to -0.002]; 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.