Genetic Epidemiology Lab, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
Nat Commun. 2020 Feb 14;11(1):817. doi: 10.1038/s41467-020-14625-1.
Although snoring is common in the general population, its aetiology has been largely understudied. Here we report a genetic study on snoring (n ~ 408,000; snorers ~ 152,000) using data from the UK Biobank. We identify 42 genome-wide significant loci, with an SNP-based heritability estimate of ~10% on the liability scale. Genetic correlations with body mass index, alcohol intake, smoking, schizophrenia, anorexia nervosa and neuroticism are observed. Gene-based associations identify 173 genes, including DLEU7, MSRB3 and POC5, highlighting genes expressed in the brain, cerebellum, lungs, blood and oesophagus. We use polygenic scores (PGS) to predict recent snoring and probable obstructive sleep apnoea (OSA) in an independent Australian sample (n ~ 8000). Mendelian randomization analyses suggest a potential causal relationship between high BMI and snoring. Altogether, our results uncover insights into the aetiology of snoring as a complex sleep-related trait and its role in health and disease beyond it being a cardinal symptom of OSA.
尽管打鼾在普通人群中很常见，但它的病因在很大程度上仍未得到充分研究。在这里，我们使用英国生物库的数据报告了一项关于打鼾（n408000；打鼾者152000）的遗传研究。我们确定了 42 个全基因组显著位点，基于 SNP 的易感性估计在 Liability 尺度上约为 10%。与体重指数、饮酒、吸烟、精神分裂症、神经性厌食症和神经质相关的遗传相关性。基因关联确定了 173 个基因，包括 DLEU7、MSRB3 和 POC5，突出了在大脑、小脑、肺、血液和食道中表达的基因。我们使用多基因评分（PGS）来预测澳大利亚独立样本（n~8000）中最近的打鼾和可能的阻塞性睡眠呼吸暂停（OSA）。孟德尔随机分析表明，高 BMI 和打鼾之间可能存在因果关系。总的来说，我们的研究结果揭示了打鼾作为一种复杂的与睡眠相关的特征的病因及其在健康和疾病中的作用，而不仅仅是 OSA 的一个主要症状。
