Skip Navigation
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

National Institute of Environmental Health Sciences

Use this QR code to view the newest version of this document
Use this QR code to view the newest version of this document

Your Environment. Your Health.

Publication Detail

Title: Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep.

Authors: Cade, Brian E; Chen, Han; Stilp, Adrienne M; Louie, Tin; Ancoli-Israel, Sonia; Arens, Raanan; Barfield, Richard; Below, Jennifer E; Cai, Jianwen; Conomos, Matthew P; Evans, Daniel S; Frazier-Wood, Alexis C; Gharib, Sina A; Gleason, Kevin J; Gottlieb, Daniel J; Hillman, David R; Johnson, W Craig; Lederer, David J; Lee, Jiwon; Loredo, Jose S; Mei, Hao; Mukherjee, Sutapa; Patel, Sanjay R; Post, Wendy S; Purcell, Shaun M; Ramos, Alberto R; Reid, Kathryn J; Rice, Ken; Shah, Neomi A; Sofer, Tamar; Taylor, Kent D; Thornton, Timothy A; Wang, Heming; Yaffe, Kristine; Zee, Phyllis C; Hanis, Craig L; Palmer, Lyle J; Rotter, Jerome I; Stone, Katie L; Tranah, Gregory J; Wilson, James G; Sunyaev, Shamil R; Laurie, Cathy C; Zhu, Xiaofeng; Saxena, Richa; Lin, Xihong; Redline, Susan

Published In PLoS Genet, (2019 Apr)

Abstract: Sleep disordered breathing (SDB)-related overnight hypoxemia is associated with cardiometabolic disease and other comorbidities. Understanding the genetic bases for variations in nocturnal hypoxemia may help understand mechanisms influencing oxygenation and SDB-related mortality. We conducted genome-wide association tests across 10 cohorts and 4 populations to identify genetic variants associated with three correlated measures of overnight oxyhemoglobin saturation: average and minimum oxyhemoglobin saturation during sleep and the percent of sleep with oxyhemoglobin saturation under 90%. The discovery sample consisted of 8,326 individuals. Variants with p < 1 × 10(-6) were analyzed in a replication group of 14,410 individuals. We identified 3 significantly associated regions, including 2 regions in multi-ethnic analyses (2q12, 10q22). SNPs in the 2q12 region associated with minimum SpO2 (rs78136548 p = 2.70 × 10(-10)). SNPs at 10q22 were associated with all three traits including average SpO2 (rs72805692 p = 4.58 × 10(-8)). SNPs in both regions were associated in over 20,000 individuals and are supported by prior associations or functional evidence. Four additional significant regions were detected in secondary sex-stratified and combined discovery and replication analyses, including a region overlapping Reelin, a known marker of respiratory complex neurons.These are the first genome-wide significant findings reported for oxyhemoglobin saturation during sleep, a phenotype of high clinical interest. Our replicated associations with HK1 and IL18R1 suggest that variants in inflammatory pathways, such as the biologically-plausible NLRP3 inflammasome, may contribute to nocturnal hypoxemia.

PubMed ID: 30990817 Exiting the NIEHS site

MeSH Terms: No MeSH terms associated with this publication

Back
to Top