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Genome-wide analyses in 1,987,836 participants identify 39 genetic loci associated with sleep apnoea

By Adrian I Campos, Nathan Ingold, Yunru Huang, Pik Fang Kho, Xikun Han, Jue-Sheng Ong, Luis M. Garcia-Marin, 23andMe Research Team, Matthew H Law, Nicholas G Martin, Xianjun Dong, Gabriel Cuellar-Partida, Stuart MacGregor, Stella Aslibekyan, Miguel E. Renteria

Posted 30 Sep 2020
medRxiv DOI: 10.1101/2020.09.29.20199893

Rationale: Sleep apnoea is a complex disorder characterised by periods of halted breathing during sleep. Despite its association with serious health conditions such as cardiovascular disease, the aetiology of sleep apnoea remains understudied, and previous genetic studies have failed to identify replicable genetic risk factors. Objective: To advance our understanding of factors that increase susceptibility to sleep apnoea by identifying novel genetic associations. Methods: We conducted a genome-wide association study (GWAS) meta-analysis of sleep apnoea across five cohorts, and a previously published GWAS of apnoea-hypopnea index (N Total =510,484). Further, we used multi-trait analysis of GWAS (MTAG) to boost statistical power, leveraging the high genetic correlations between apnoea, snoring and body mass index. Replication was performed in an independent sample from 23andMe, Inc (N Total =1,477,352; N cases =175,522). Results: Our results revealed 39 independent genomic loci robustly associated with sleep apnoea risk, and significant genetic correlations with multisite chronic pain, sleep disorders, diabetes, high blood pressure, osteoarthritis, asthma and BMI-related traits. We also derived polygenic risk scores for sleep apnoea in a leave-one-out independent cohort and predicted probable sleep apnoea in participants (OR=1.15 to 1.22; variance explained = 0.4 to 0.9%). Conclusions: We report novel genetic markers robustly associated with sleep apnoea risk and substantial molecular overlap with other complex traits, thus advancing our understanding of the underlying biological mechanisms of susceptibility to sleep apnoea.

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