학술논문
Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program
Document Type
article
Author
Cade, Brian E; Lee, Jiwon; Sofer, Tamar; Wang, Heming; Zhang, Man; Chen, Han; Gharib, Sina A; Gottlieb, Daniel J; Guo, Xiuqing; Lane, Jacqueline M; Liang, Jingjing; Lin, Xihong; Mei, Hao; Patel, Sanjay R; Purcell, Shaun M; Saxena, Richa; Shah, Neomi A; Evans, Daniel S; Hanis, Craig L; Hillman, David R; Mukherjee, Sutapa; Palmer, Lyle J; Stone, Katie L; Tranah, Gregory J; Abecasis, Gonçalo R; Boerwinkle, Eric A; Correa, Adolfo; Cupples, L Adrienne; Kaplan, Robert C; Nickerson, Deborah A; North, Kari E; Psaty, Bruce M; Rotter, Jerome I; Rich, Stephen S; Tracy, Russell P; Vasan, Ramachandran S; Wilson, James G; Zhu, Xiaofeng; Redline, Susan
Source
Genome Medicine. 13(1)
Subject
Language
Abstract
BackgroundSleep-disordered breathing is a common disorder associated with significant morbidity. The genetic architecture of sleep-disordered breathing remains poorly understood. Through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program, we performed the first whole-genome sequence analysis of sleep-disordered breathing.MethodsThe study sample was comprised of 7988 individuals of diverse ancestry. Common-variant and pathway analyses included an additional 13,257 individuals. We examined five complementary traits describing different aspects of sleep-disordered breathing: the apnea-hypopnea index, average oxyhemoglobin desaturation per event, average and minimum oxyhemoglobin saturation across the sleep episode, and the percentage of sleep with oxyhemoglobin saturation