Insights into the aetiology of snoring from observational and genetic investigations in the UK Biobank.,Nature Communications

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Insights into the aetiology of snoring from observational and genetic investigations in the UK Biobank.
Nature Communications ( IF 14.7 ) Pub Date : 2020-02-14 , DOI: 10.1038/s41467-020-14625-1
Adrián I Campos _{1,

2} , Luis M García-Marín _{1,

3} , Enda M Byrne ₄ , Nicholas G Martin ₁ , Gabriel Cuéllar-Partida _{2,

5} , Miguel E Rentería _{1,

2}

Affiliation

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.

中文翻译：

从英国生物库的观察和基因研究中了解打的病因。

虽然打population在普通人群中很普遍，但其病因学已被大大研究。在这里，我们报告了一项打bank的遗传研究（n〜408,000；打nor者〜152,000），使用了来自英国生物银行的数据。我们确定了42个全基因组的重要基因座，在责任规模上，基于SNP的遗传力估计约为10％。观察到与体重指数，酒精摄入，吸烟，精神分裂症，神经性厌食症和神经质的遗传相关性。基于基因的关联可识别173个基因，包括DLEU7，MSRB3和POC5，突出显示在脑，小脑，肺，血液和食道中表达的基因。我们使用多基因评分（PGS）在独立的澳大利亚样本中（n〜8000）预测近期的打s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与打之间存在潜在的因果关系。总的来说，我们的结果揭示了打sleep作为一种与睡眠有关的复杂特征的病因学及其在健康和疾病中的作用的见解，而这并不是OSA的主要症状。

更新日期：2020-02-14

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