Genome-Wide Association Study of Obstructive Sleep Apnea and Objective Sleep-related Traits Identifies Novel Risk Loci in Han Chinese Individuals

Previous genetic studies of obstructive sleep apnea (OSA) have limitations in terms of precise case definition, integrated quantitative traits, and interpretation of genetic functions; thus, the heritability of OSA remains poorly explained. To identify novel genetic variants associated with OSA and...

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Veröffentlicht in:	American journal of respiratory and critical care medicine 2022-12, Vol.206 (12), p.1534-1545
Hauptverfasser:	Xu, Huajun, Liu, Feng, Li, Zhiqiang, Li, Xinyi, Liu, Yuenan, Li, Niannian, Zhang, Xiaoxu, Gao, Zhenfei, Zhang, Xiaoman, Liu, Yupu, Zou, Jianyin, Meng, Lili, Liu, Suru, Zhu, Huaming, Tang, Xulan, Wu, Hongmin, Su, Kaiming, Chen, Bin, Yu, Dongzhen, Ye, Haibo, Chen, Haoyan, Yi, Hongliang, Yin, Shankai, Guan, Jian, Shi, Yongyong
Format:	Artikel
Sprache:	eng
Schlagworte:	Airway management Animals Asian people East Asian People Genetics Genome-Wide Association Study Genomes Genotype & phenotype Health risks Humans Membrane Transport Proteins - genetics Mice Microfilament Proteins - genetics Molecular Chaperones - genetics Riboflavin Sleep Sleep apnea Sleep Apnea, Obstructive - genetics
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Zusammenfassung:	Previous genetic studies of obstructive sleep apnea (OSA) have limitations in terms of precise case definition, integrated quantitative traits, and interpretation of genetic functions; thus, the heritability of OSA remains poorly explained. To identify novel genetic variants associated with OSA and objective sleep-related traits and to explore their functional roles. A genome-wide association study was performed in 20,590 Han Chinese individuals (5,438 OSA and 15,152 control samples). Human samples and point mutation knockin mice were used for follow-up investigation of gene functions. Two characteristic study-wide significant loci (
ISSN:	1073-449X 1535-4970
DOI:	10.1164/rccm.202109-2044OC