Evidence map›Paper›PMID 36525587›Full record

SynthesisSleep2023

Discovery of genomic loci associated with sleep apnea risk through multi-trait GWAS analysis with snoring.

Adrian I Campos, Nathan Ingold, Yunru Huang, Brittany L Mitchell, Pik-Fang Kho, Xikun Han, Luis M García-Marín, Jue-Sheng Ong, 23andMe Research Team, Matthew H Law and 7 more

Open access · hybridAbstract readMeta-Analysis
In one paragraph

Synthesis in Sleep, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 2 pooled it
4.0field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

31 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors at 8 institutions in 2 countries.

Adrian I CamposQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0003-3468-8619
Nathan IngoldQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Yunru Huang23andMe, Inc., Sunnyvale, CA, USA.
Brittany L MitchellQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Pik-Fang KhoDivision of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0001-7831-6062
Xikun HanProgram in Genetic Epidemiology and Statistical Genetics, Harvard University T.H. Chan School of Public Health, Boston, MA, USA.
Luis M García-MarínQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0003-4731-6558
Jue-Sheng OngQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
23andMe Research Team
Matthew H LawQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0002-4303-8821
Jennifer S YokoyamaMemory and Aging Center, University of California, San Francisco, San Francisco, CA, USA.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0003-4069-8020
Xianjun DongGenomics and Bioinformatics Hub, Brigham and Women's Hospital, Boston, MA, USA.ORCID 0000-0002-8052-9320
Gabriel Cuellar-Partida23andMe, Inc., Sunnyvale, CA, USA.
Stuart MacGregorQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0001-6731-8142
Stella Aslibekyan23andMe, Inc., Sunnyvale, CA, USA.
Miguel E RenteríaQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0003-4626-7248
23andMe (United States) · USQueensland University of Technology · AUQIMR Berghofer Medical Research Institute · AUThe University of Queensland · AUBrigham and Women's Hospital · USHarvard University · USStanford University · USUniversity of California, San Francisco · US

Funding

CIHR LSA 94473
6 · The paper itself

Abstract

STUDY

objectivesDespite its association with severe health conditions, the etiology of sleep apnea (SA) remains understudied. This study sought to identify genetic variants robustly associated with SA risk.

methodsWe performed a genome-wide association study (GWAS) meta-analysis of SA across five cohorts (NTotal = 523 366), followed by a multi-trait analysis of GWAS (multi-trait analysis of genome-wide association summary statistics [MTAG]) to boost power, leveraging the high genetic correlation between SA and snoring. We then adjusted our results for the genetic effects of body mass index (BMI) using multi-trait-based conditional and joint analysis (mtCOJO) and sought replication of lead hits in a large cohort of participants from 23andMe, Inc (NTotal = 1 477 352; Ncases = 175 522). We also explored genetic correlations with other complex traits and performed a phenome-wide screen for causally associated phenotypes using the latent causal variable method.

resultsOur SA meta-analysis identified five independent variants with evidence of association beyond genome-wide significance. After adjustment for BMI, only one genome-wide significant variant was identified. MTAG analyses uncovered 49 significant independent loci associated with SA risk. Twenty-nine variants were replicated in the 23andMe GWAS adjusting for BMI. We observed genetic correlations with several complex traits, including multisite chronic pain, diabetes, eye disorders, high blood pressure, osteoarthritis, chronic obstructive pulmonary disease, and BMI-associated conditions.

conclusionOur study uncovered multiple genetic loci associated with SA risk, thus increasing our understanding of the etiology of this condition and its relationship with other complex traits.

Indexed as

Genome-Wide Association StudySleep Apnea SyndromesGenomicsHumansPhenotypePolymorphism, Single NucleotideSnoringgeneticsGWASsleep apneasnoring

Identifiers

PMID36525587
PMCPMC9995783
OpenAlexW4311822639

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.