Insights into the aetiology of snoring from observational and genetic investigations in the UK Biobank

Adrián I. Campos, Luis M. García-Marín, Enda M. Byrne, Nicholas G. Martin, Gabriel Cuéllar-Partida () and Miguel E. Rentería ()
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Adrián I. Campos: QIMR Berghofer Medical Research Institute
Luis M. García-Marín: QIMR Berghofer Medical Research Institute
Enda M. Byrne: Institute for Molecular Bioscience, The University of Queensland
Nicholas G. Martin: QIMR Berghofer Medical Research Institute
Gabriel Cuéllar-Partida: The University of Queensland
Miguel E. Rentería: QIMR Berghofer Medical Research Institute

Nature Communications, 2020, vol. 11, issue 1, 1-12

Abstract: Abstract 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.

Date: 2020
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DOI: 10.1038/s41467-020-14625-1

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