Genetic Overlap Between Obstructive Sleep Apnea and Ischemic Stroke: A Large-Scale Genome-Wide Cross-Trait Analysis.

IF 3 2区医学 Q2 CLINICAL NEUROLOGY Nature and Science of Sleep Pub Date : 2025-03-08 eCollection Date: 2025-01-01 DOI:10.2147/NSS.S495422

Wanqing Lin, Zhiyi Zhang, Chenlin Wang, Yingling Ye, Lingrong Zheng, Qianqian Hu, Renyu Yu, Mingxia Wu, Bin Chen

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引用次数: 0

Abstract

Background: To further understand the complex relationship between Obstructive Sleep Apnea (OSA) and ischemic stroke, this study explores the role of genetic factors in the comorbidity of these two conditions.

Methods: Based on large-scale available Genome-Wide Association Studies (GWAS) for OSA and ischemic stroke, we conducted a multi-level cross-trait analysis. First, we utilized Linkage Disequilibrium Score Regression (LDSC) to analyze the genetic correlation between the two diseases. Subsequently, we performed cross-trait analysis to identify pleiotropic Single Nucleotide Polymorphisms (SNPs) associated with both OSA and ischemic stroke. On this basis, we applied annotation and Multi-marker Analysis of GenoMic Annotation (MAGMA) analysis to examine results at the gene level. Finally, we conducted Transcriptome-Wide Association Studies (TWAS) to analyze gene expressions significantly related to both traits.

Results: The LDSC analysis revealed a significant positive genetic correlation between OSA and ischemic stroke. Cross-trait analysis identified a total of 90 pleiotropic SNPs, with rs78581380 being the most significant. Combining Functional Mapping and Annotation (FUMA) annotation and MAGMA analysis, we identified 83 genes in total. TWAS analysis discovered 23 gene expressions that were significantly associated with both OSA and ischemic stroke traits.

Conclusion: This study elucidates the shared genetic architecture between OSA and ischemic stroke, emphasizing the crucial role of genetic factors in the comorbidity of these two conditions.

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来源期刊

Nature and Science of Sleep Neuroscience-Behavioral Neuroscience

CiteScore

5.70

自引率

5.90%

发文量

245

审稿时长

16 weeks

期刊介绍： Nature and Science of Sleep is an international, peer-reviewed, open access journal covering all aspects of sleep science and sleep medicine, including the neurophysiology and functions of sleep, the genetics of sleep, sleep and society, biological rhythms, dreaming, sleep disorders and therapy, and strategies to optimize healthy sleep. Specific topics covered in the journal include: The functions of sleep in humans and other animals Physiological and neurophysiological changes with sleep The genetics of sleep and sleep differences The neurotransmitters, receptors and pathways involved in controlling both sleep and wakefulness Behavioral and pharmacological interventions aimed at improving sleep, and improving wakefulness Sleep changes with development and with age Sleep and reproduction (e.g., changes across the menstrual cycle, with pregnancy and menopause) The science and nature of dreams Sleep disorders Impact of sleep and sleep disorders on health, daytime function and quality of life Sleep problems secondary to clinical disorders Interaction of society with sleep (e.g., consequences of shift work, occupational health, public health) The microbiome and sleep Chronotherapy Impact of circadian rhythms on sleep, physiology, cognition and health Mechanisms controlling circadian rhythms, centrally and peripherally Impact of circadian rhythm disruptions (including night shift work, jet lag and social jet lag) on sleep, physiology, cognition and health Behavioral and pharmacological interventions aimed at reducing adverse effects of circadian-related sleep disruption Assessment of technologies and biomarkers for measuring sleep and/or circadian rhythms Epigenetic markers of sleep or circadian disruption.