Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program.
Brian E CadeJiwon LeeTamar SoferHeming WangMan ZhangHan ChenSina A GharibDaniel J GottliebXiuqing GuoJacqueline M LaneJingjing LiangXihong LinHao MeiSanjay R PatelShaun M PurcellRicha SaxenaNeomi A ShahDaniel S EvansCraig L HanisDavid R HillmanSutapa MukherjeeLyle J PalmerKatie L StoneGregory J Tranahnull nullGonçalo R AbecasisEric A BoerwinkleAdolfo CorreaL Adrienne CupplesRobert C KaplanDeborah A NickersonKari E NorthBruce M PsatyJerome I RotterStephen S RichRussell P TracyRamachandran S VasanJames G WilsonXiaofeng ZhuSusan Redlinenull nullPublished in: Genome medicine (2021)
We have identified the first gene-based rare-variant associations with objectively measured sleep-disordered breathing traits. Our results increase the understanding of the genetic architecture of sleep-disordered breathing and highlight associations in genes that modulate lung development, inflammation, respiratory rhythmogenesis, and HIF1A-mediated hypoxic response.