Insights into the aetiology of snoring from observational and genetic investigations in the UK Biobank (n=408,317)

Abstract

We conducted the largest study of snoring using data from the UK Biobank (n ~ 408,000; snorers ~152,000). A genome-wide association study (GWAS) identified 42 genome-wide significant loci, with a SNP-based heritability estimate of ~10% on the liability scale. Genetic correlations with body mass index, alcohol intake, smoking, schizophrenia, anorexia nervosa and neuroticism were observed. Gene-based associations identified 173 genes, including DLEU7, MSRB3 and POC5 highlighting genes expressed in brain, cerebellum, lungs, blood, and oesophagus tissues. We used polygenic scores (PGS) to predict recent snoring and probable obstructive sleep apnoea (OSA) in an independent Australian sample (n~8,000). Mendelian randomisation analyses provided evidence that larger whole body fat mass causes snoring. Altogether, our results uncover new insights into the aetiology of snoring as a complex sleep-related trait and its role in health and disease beyond being a cardinal symptom of OSA.

Correlations in sleeping patterns and circadian preference between spouses

“…We used MR to investigate evidence for an effect of an individuals' sleeping patterns on the sleeping patterns of their spouse. This was done by generating a series of genetic risk scores (GRS) for the 5 selfreported sleep traits (chronotype (morning/evening preference) (55), ease of waking up, insomnia symptoms (56), sleep duration (57) and snoring (58)) and 4 accelerometer-derived sleep traits (mean L5 time, number of nocturnal sleep episodes, mean daily sleep duration and mean sleep efficiency (36)).…”