{"title":"Exploring the Shared Genetic Architecture Between Obstructive Sleep Apnea and Body Mass Index.","authors":"Peng Zhou, Ling Li, Zehua Lin, Xiaoping Ming, Yiwei Feng, Yifan Hu, Xiong Chen","doi":"10.2147/NSS.S459136","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>The reciprocal comorbidity of obstructive sleep apnea (OSA) and body mass index (BMI) has been observed, yet the shared genetic architecture between them remains unclear. This study aimed to explore the genetic overlaps between them.</p><p><strong>Methods: </strong>Summary statistics were acquired from the genome-wide association studies (GWASs) on OSA (N<sub>case</sub> = 41,704; N<sub>control</sub> = 335,573) and BMI (N<sub>overall</sub> = 461,460). A comprehensive genome-wide cross-trait analysis was performed to quantify global and local genetic correlation, infer the bidirectional causal relationships, detect independent pleiotropic loci, and investigate potential comorbid genes.</p><p><strong>Results: </strong>A positive significant global genetic correlation between OSA and BMI was observed (<i>r</i> <sub>g</sub> = 0.52, <i>P</i> = 2.85e-122), which was supported by three local signal. The Mendelian randomization analysis confirmed bidirectional causal associations. In the meta-analysis of cross-traits GWAS, a total of 151 single-nucleotide polymorphisms were found to be pleiotropic between OSA and BMI. Additionally, we discovered that the genetic association between OSA and BMI is concentrated in 12 brain regions. Finally, a total 134 expression-tissue pairs were observed to have a significant impact on both OSA and BMI within the specified brain regions.</p><p><strong>Conclusion: </strong>Our comprehensive genome-wide cross-trait analysis indicates a shared genetic architecture between OSA and BMI, offering new perspectives on the possible mechanisms involved.</p>","PeriodicalId":18896,"journal":{"name":"Nature and Science of Sleep","volume":null,"pages":null},"PeriodicalIF":3.0000,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11166156/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature and Science of Sleep","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2147/NSS.S459136","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose: The reciprocal comorbidity of obstructive sleep apnea (OSA) and body mass index (BMI) has been observed, yet the shared genetic architecture between them remains unclear. This study aimed to explore the genetic overlaps between them.
Methods: Summary statistics were acquired from the genome-wide association studies (GWASs) on OSA (Ncase = 41,704; Ncontrol = 335,573) and BMI (Noverall = 461,460). A comprehensive genome-wide cross-trait analysis was performed to quantify global and local genetic correlation, infer the bidirectional causal relationships, detect independent pleiotropic loci, and investigate potential comorbid genes.
Results: A positive significant global genetic correlation between OSA and BMI was observed (rg = 0.52, P = 2.85e-122), which was supported by three local signal. The Mendelian randomization analysis confirmed bidirectional causal associations. In the meta-analysis of cross-traits GWAS, a total of 151 single-nucleotide polymorphisms were found to be pleiotropic between OSA and BMI. Additionally, we discovered that the genetic association between OSA and BMI is concentrated in 12 brain regions. Finally, a total 134 expression-tissue pairs were observed to have a significant impact on both OSA and BMI within the specified brain regions.
Conclusion: Our comprehensive genome-wide cross-trait analysis indicates a shared genetic architecture between OSA and BMI, offering new perspectives on the possible mechanisms involved.
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.
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