Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program
Brian E Cade,
Sina A. Gharib,
Daniel J Gottlieb,
Jacqueline M Lane,
Sanjay R. Patel,
Shaun M Purcell,
Neomi A Shah,
Daniel S Evans,
Craig L Hanis,
David R Hillman,
Lyle J. Palmer,
Katie L Stone,
Gregory J Tranah,
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium,
Gonçalo R. Abecasis,
Eric A. Boerwinkle,
L. Adrienne Cupples,
Robert C. Kaplan,
Deborah A. Nickerson,
Kari E. North,
Bruce M. Psaty,
Jerome I. Rotter,
Stephen S. Rich,
Russell P. Tracy,
Ramachandran S Vasan,
James G Wilson,
TOPMed Sleep Working Group
Posted 03 Jun 2019
bioRxiv DOI: 10.1101/652966
Posted 03 Jun 2019
Sleep-disordered breathing (SDB) is a common disorder associated with significant morbidity. Through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program we report the first whole-genome sequence analysis of SDB. We identified 4 rare gene-based associations with SDB traits in 7,988 individuals of diverse ancestry and 4 replicated common variant associations with inclusion of additional samples (n=13,257). We identified a multi-ethnic set-based rare-variant association (p = 3.48 x 10-8) on chromosome X with ARMCX3. Transcription factor binding site enrichment identified associations with genes implicated with respiratory and craniofacial traits. Results highlighted associations in genes that modulate lung development, inflammation, respiratory rhythmogenesis and HIF1A-mediated hypoxic response.
- Downloaded 325 times
- Download rankings, all-time:
- Site-wide: 46,803 out of 84,647
- In genetics: 2,706 out of 4,445
- Year to date:
- Site-wide: 36,674 out of 84,647
- Since beginning of last month:
- Site-wide: 53,657 out of 84,647
Downloads over time
Distribution of downloads per paper, site-wide
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!