Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

Autor: 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 M. 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, Gonçalo R. 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
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Genome Medicine, Vol 13, Iss 1, Pp 1-17 (2021)
Druh dokumentu: article
ISSN: 1756-994X
DOI: 10.1186/s13073-021-00917-8
Popis: Abstract Background Sleep-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. Methods The 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
Databáze: Directory of Open Access Journals
Nepřihlášeným uživatelům se plný text nezobrazuje