Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep. Cade, B. E, Chen, H., Stilp, A. M, Louie, T., Ancoli-Israel, S., Arens, R., Barfield, R., Below, J. E, Cai, J., Conomos, M. P, Evans, D. S, Frazier-Wood, A. C, Gharib, S. A, Gleason, K. J, Gottlieb, D. J, Hillman, D. R, Johnson, W C., Lederer, D. J, Lee, J., Loredo, J. S, Mei, H., Mukherjee, S., Patel, S. R, Post, W. S, Purcell, S. M, Ramos, A. R, Reid, K. J, Rice, K., Shah, N. A, Sofer, T., Taylor, K. D, Thornton, T. A, Wang, H., Yaffe, K., Zee, P. C, Hanis, C. L, Palmer, L. J, Rotter, J. I, Stone, K. L, Tranah, G. J, Wilson, J. G, Sunyaev, S. R, Laurie, C. C, Zhu, X., Saxena, R., Lin, X., & Redline, S. PLoS Genet, 15:e1007739, 2019.
doi  abstract   bibtex   
\textlessp\textgreaterSleep 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 \textless 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.\textless/p\textgreater
@article{cade_associations_2019,
	title = {Associations of variants {In} the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep.},
	volume = {15},
	issn = {1553-7404},
	doi = {10.1371/journal.pgen.1007739},
	abstract = {{\textless}p{\textgreater}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 {\textless} 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.{\textless}/p{\textgreater}},
	journal = {PLoS Genet},
	author = {Cade, Brian E and Chen, Han and Stilp, Adrienne M and Louie, Tin and Ancoli-Israel, Sonia and Arens, Raanan and Barfield, Richard and Below, Jennifer E and Cai, Jianwen and Conomos, Matthew P and Evans, Daniel S and Frazier-Wood, Alexis C and Gharib, Sina A and Gleason, Kevin J and Gottlieb, Daniel J and Hillman, David R and Johnson, W Craig and Lederer, David J and Lee, Jiwon and Loredo, Jose S and Mei, Hao and Mukherjee, Sutapa and Patel, Sanjay R and Post, Wendy S and Purcell, Shaun M and Ramos, Alberto R and Reid, Kathryn J and Rice, Ken and Shah, Neomi A and Sofer, Tamar and Taylor, Kent D and Thornton, Timothy A and Wang, Heming and Yaffe, Kristine and Zee, Phyllis C and Hanis, Craig L and Palmer, Lyle J and Rotter, Jerome I and Stone, Katie L and Tranah, Gregory J and Wilson, James G and Sunyaev, Shamil R and Laurie, Cathy C and Zhu, Xiaofeng and Saxena, Richa and Lin, Xihong and Redline, Susan},
	year = {2019},
	keywords = {80 and over, Adolescent, Adult, Aged, Cell Adhesion Molecules, Computational Biology, Extracellular Matrix Proteins, Female, Gene Regulatory Networks, Genetic Variation, Genome-Wide Association Study, Hexokinase, Humans, Hypoxia, Interleukin-18 Receptor alpha Subunit, Male, Middle Aged, NLR Family, Nerve Tissue Proteins, Neuronal, Oxygen, Oxyhemoglobins, Polymorphism, Pyrin Domain-Containing 3 Protein, Quantitative Trait Loci, Serine Endopeptidases, Single Nucleotide, Sleep, Sleep Apnea Syndromes, Young Adult},
	pages = {e1007739},
}
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