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Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program
By
Brian E. Cade,
Jiwon Lee,
Tamar Sofer,
Heming Wang,
Man Zhang,
Han Chen,
Sina A. Gharib,
Daniel J Gottlieb,
Xiuqing Guo,
Jacqueline M. Lane,
Jingjing Liang,
Xihong Lin,
Hao Mei,
Sanjay R. Patel,
Shaun Purcell,
Richa Saxena,
Neomi A Shah,
Daniel S Evans,
Craig L Hanis,
David R Hillman,
Sutapa Mukherjee,
Lyle J. Palmer,
Katie L Stone,
Gregory J Tranah,
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium,
Goncalo Abecasis,
Eric A. Boerwinkle,
Adolfo Correa,
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,
Xiaofeng Zhu,
Susan Redline,
TOPMed Sleep Working Group
Posted 03 Jun 2019
bioRxiv DOI: 10.1101/652966
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.
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