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JOURNAL ARTICLE
Ruiling Liang, Wenjun Zhu, Yinghui Gao, Chen Zhao, Chi Zhang, Liyue Xu, Yuhua Zuo, Yunhui Lv, Mingming Zhao, Chenyu Li, Jie Gao, Junhua Mei, Xue Gong, Lisan Zhang, Shuxia Shen, Chunbin Yang, Jilin Ren, Yan Liu, Zan Wang, Peipei Wang, Jinxia Zhou, Feng Wang, Jun Wu, Juan Chen, Yanmei Zhu, Chunrong Zhang, Xiaosong Dong, Fang Han
STUDY OBJECTIVES: To systemically describe the clinical features, polysomnography (PSG) finding, laboratory tests and single-nucleotide polymorphisms (SNPs) in a clinic based Chinese primary restless legs syndrome (RLS) population. METHODS: This observational study, conducted from January 2020 to October 2021 across 22 sleep labs in China, recruited 771 patients diagnosed with RLS following the 2014 RLSSG criteria. Clinical data, PSG testing, and laboratory examination and SNPs of patients with RLS were collected...
March 21, 2024: Sleep Medicine
#22
JOURNAL ARTICLE
Cheng Liu, Li He, Xiangde Zheng
BACKGROUND: The association between sepsis and non-infectious respiratory diseases is well-documented, yet the specific causal link between the two remains unclear. In order to explore this relationship further, we employed a Mendelian randomization (MR) analysis utilizing data from the UK Biobank and FinnGen Biobank. METHODS: We analyzed the summary statistics of a genome-wide association study (GWAS) summary statistics for chronic obstructive pulmonary disease (COPD), asthma, pulmonary embolism (PE), idiopathic pulmonary fibrosis (IPF), obstructive sleep apnea (OSA), lung cancer, sepsis, and sepsis-related mortality...
March 25, 2024: Shock
#23
JOURNAL ARTICLE
Huang-Hong Zhao, Zhen Ma, Dong-Sheng Guan
BACKGROUND: Despite being one of the most prevalent sleep disorders, obstructive sleep apnea hypoventilation syndrome (OSAHS) has limited information on its immunologic foundation. The immunological underpinnings of certain major psychiatric diseases have been uncovered in recent years thanks to the extensive use of genome-wide association studies (GWAS) and genotyping techniques using high-density genetic markers ( e.g. , SNP or CNVs). But this tactic hasn't yet been applied to OSAHS...
March 6, 2024: World Journal of Clinical Cases
#24
JOURNAL ARTICLE
Juanjuan Zou, Shengnan Qi, Xiaojing Sun, Yijing Zhang, Yan Wang, Yanzhong Li, Ze-Hua Zhao, Dapeng Lei
BACKGROUND: Obstructive sleep apnea (OSA) is considered to be an important contributor of dyslipidemia. However, there lacks observational studies focusing on the potential effect of lipid management on OSA risk. Thus, we aimed to investigate the genetic association of lipid-modifying therapy with risk of OSA. METHODS: A drug-target mendelian randomization (MR) study using both cis-variants and cis-expression quantitative trait loci (eQTLs) of lipid-modifying drug targets was performed...
March 21, 2024: Toxicology and Applied Pharmacology
#25
JOURNAL ARTICLE
Yongli Yang, Long Wen, Xuezhong Shi, Chaojun Yang, Jingwen Fan, Yi Zhang, Guibin Shen, Huiping Zhou, Xiaocan Jia
PURPOSE: Previous observational studies have suggested an association between sleep disturbance and metabolic syndrome (MetS). However, it remains unclear whether this association is causal. This study aims to investigate the causal effects of sleep-related traits on MetS using Mendelian randomization (MR). METHODS: Single-nucleotide polymorphisms strongly associated with daytime napping, insomnia, chronotype, short sleep, and long sleep were selected as genetic instruments from the corresponding genome-wide association studies (GWAS)...
March 20, 2024: Sleep & Breathing
#26
JOURNAL ARTICLE
Kun Liu, Chenyang Zang, Jixu Wang, Jie Liu, Ziliang Chen, Meng He, Bin Liu, Xiaoli Su, Yuan Zhang, Minhan Yi
BACKGROUND: This study aimed to evaluate the causal impact of common modifiable lifestyles on obstructive sleep apnea (OSA), which is beneficial for recommendations to prevent and manage OSA. METHOD: Published genome-wide association study (GWAS) summary statistics were used to perform two-sample Mendelian randomization (MR). Variants associated with each exposure of smoking, drinking, and leisure sedentary behaviors at the genetic level were used as instrumental variables (IVs)...
2024: Frontiers in Public Health
#27
JOURNAL ARTICLE
Zong-Xiao Lu, Ni Sang, Rong-Chao Liu, Bo-Han Li, Meng-Yao Zhang, Ming-Hui Zhang, Meng-Cheng Cheng, Guo-Cui Wu
OBJECTIVE: Adequate sleep is closely related to people's health. However, with increasing age, the quality of sleep worsens. At the same time, among elderly individuals, frailty is also a disturbing factor, which makes elderly individuals more vulnerable to negative factors. To explore the relationship between the two, we conducted this study. METHODS: In this paper, independent genetic variations related to insomnia, sleep duration and daytime sleepiness were selected as IVs, and related genetic tools were used to search published genome-wide association studies for a two-sample Mendelian randomization (TSMR) analysis...
March 19, 2024: European Journal of Ageing
#28
Pavithra Nagarajan, Thomas W Winkler, Amy R Bentley, Clint L Miller, Aldi T Kraja, Karen Schwander, Songmi Lee, Wenyi Wang, Michael R Brown, John L Morrison, Ayush Giri, Jeffrey R O'Connell, Traci M Bartz, Lisa de Las Fuentes, Valborg Gudmundsdottir, Xiuqing Guo, Sarah E Harris, Zhijie Huang, Mart Kals, Minjung Kho, Christophe Lefevre, Jian'an Luan, Leo-Pekka Lyytikäinen, Massimo Mangino, Yuri Milaneschi, Nicholette D Palmer, Varun Rao, Rainer Rauramaa, Botong Shen, Stefan Stadler, Quan Sun, Jingxian Tang, Sébastien Thériault, Adriaan van der Graaf, Peter J van der Most, Yujie Wang, Stefan Weiss, Kenneth E Westerman, Qian Yang, Tabara Yasuharu, Wei Zhao, Wanying Zhu, Drew Altschul, Md Abu Yusuf Ansari, Pramod Anugu, Anna D Argoty-Pantoja, Michael Arzt, Hugues Aschard, John R Attia, Lydia Bazzanno, Max A Breyer, Jennifer A Brody, Brian E Cade, Hung-Hsin Chen, Yii-Der Ida Chen, Zekai Chen, Paul S de Vries, Latchezar M Dimitrov, Anh Do, Jiawen Du, Charles T Dupont, Todd L Edwards, Michele K Evans, Tariq Faquih, Stephan B Felix, Susan P Fisher-Hoch, James S Floyd, Mariaelisa Graff, Charles Gu, Dongfeng Gu, Kristen G Hairston, Anthony J Hanley, Iris M Heid, Sami Heikkinen, Heather M Highland, Michelle M Hood, Mika Kähönen, Carrie A Karvonen-Gutierrez, Takahisa Kawaguchi, Setoh Kazuya, Tanika N Kelly, Pirjo Komulainen, Daniel Levy, Henry J Lin, Peter Y Liu, Pedro Marques-Vidal, Joseph B McCormick, Hao Mei, James B Meigs, Cristina Menni, Kisung Nam, Ilja M Nolte, Natasha L Pacheco, Lauren E Petty, Hannah G Polikowsky, Michael A Province, Bruce M Psaty, Laura M Raffield, Olli T Raitakari, Stephen S Rich, Renata L Riha, Lorenz Risch, Martin Risch, Edward A Ruiz-Narvaez, Rodney J Scott, Colleen M Sitlani, Jennifer A Smith, Tamar Sofer, Maris Teder-Laving, Uwe Völker, Peter Vollenweider, Guanchao Wang, Ko Willems van Dijk, Otis D Wilson, Rui Xia, Jie Yao, Kristin L Young, Ruiyuan Zhang, Xiaofeng Zhu, Jennifer E Below, Carsten A Böger, David Conen, Simon R Cox, Marcus Dörr, Mary F Feitosa, Ervin R Fox, Nora Franceschini, Sina A Gharib, Vilmundur Gudnason, Sioban D Harlow, Jiang He, Elizabeth G Holliday, Zoltan Kutalik, Timo A Lakka, Deborah A Lawlor, Seunggeun Lee, Terho Lehtimäki, Changwei Li, Ching-Ti Liu, Reedik Mägi, Fumihiko Matsuda, Alanna C Morrison, Brenda Wjh Penninx, Patricia A Peyser, Jerome I Rotter, Harold Snieder, Tim D Spector, Lynne E Wagenknecht, Nicholas J Wareham, Alan B Zonderman, Kari E North, Myriam Fornage, Adriana M Hung, Alisa K Manning, James Gauderman, Han Chen, Patricia B Munroe, Dabeeru C Rao, Diana van Heemst, Susan Redline, Raymond Noordam, Heming Wang
Although both short and long sleep duration are associated with elevated hypertension risk, our understanding of their interplay with biological pathways governing blood pressure remains limited. To address this, we carried out genome-wide cross-population gene-by-short-sleep and long-sleep duration interaction analyses for three blood pressure traits (systolic, diastolic, and pulse pressure) in 811,405 individuals from diverse population groups. We discover 22 novel gene-sleep duration interaction loci for blood pressure, mapped to genes involved in neurological, thyroidal, bone metabolism, and hematopoietic pathways...
March 8, 2024: medRxiv
#29
JOURNAL ARTICLE
S Giatti, L Cioffi, S Diviccaro, R Piazza, R C Melcangi
PURPOSE: As reported in patients treated for androgenetic alopecia with finasteride (i.e., a blocker of the enzyme 5 alpha-reductase) and in an animal model, side effects affecting sexual, psychiatric, neurological, and physical domains, may occur during the treatment and persist with drug suspension. The etiopathogenesis of these side effects has been poorly explored. Therefore, we performed a genome-wide analysis of finasteride effects in the brain of adult male rat. METHODS: Animals were treated (i...
March 17, 2024: Journal of Endocrinological Investigation
#30
JOURNAL ARTICLE
Eileen Sember, Ranga Chennakesavula, Breanna Beard, Mubaraq Opoola, Dae-Sung Hwangbo
Werner syndrome (WS) is a rare genetic disease in humans, caused by mutations in the WRN gene that encodes a protein containing helicase and exonuclease domains. WS is characterized by symptoms of accelerated aging in multiple tissues and organs, involving increased risk of cancer, heart failure, and metabolic dysfunction. These conditions ultimately lead to the premature mortality of patients with WS. In this study, using the null mutant flies (WRNexoΔ) for the gene WRNexo (CG7670), homologous to the exonuclease domain of WRN in humans, we examined how diets affect the lifespan, stress resistance, and sleep/wake patterns of a Drosophila model of WS...
March 16, 2024: G3: Genes—Genomes—Genetics
#31
JOURNAL ARTICLE
Yunan He, Lu Wang, Ruonan Tang, Hongbin Jin, Bangshan Liu, Shuqiang Chen, Hui Mu, Xiaohong Wang
BACKGROUND: The direct causal relationships between common mental disorders (anxiety disorders, broad depression, major depressive disorder (MDD), bipolar disorder, and insomnia) and miscarriage or recurrent spontaneous abortion (RSA) are unclear. Therefore, this study aimed to explore these, using Mendelian randomization. METHODS: Genome-wide association studies (GWAS) meta-analyses with the largest sample size possible and selected independent single individuals of European ancestry were selected...
March 12, 2024: Journal of Affective Disorders
#32
JOURNAL ARTICLE
Mert Karabacak, Ankita Jain, Pemla Jagtiani, Zachary L Hickman, Kristen Dams-O'Connor, Konstantinos Margetis
Traumatic brain injury (TBI) has evolved from a topic of relative obscurity to one of widespread scientific and lay interest. The scope and focus of TBI research have shifted, and research trends have changed in response to public and scientific interest. This study has two primary goals: first, to identify the predominant themes in TBI research; and second, to delineate "hot" and "cold" areas of interest by evaluating the current popularity or decline of these topics. Hot topics may be dwarfed in absolute numbers by other, larger TBI research areas but are rapidly gaining interest...
2024: Neurotrauma reports
#33
JOURNAL ARTICLE
Siqing Chen, Lili Yang, Yuting Yang, Wenmini Shi, Matthew Stults-Kolehmainen, Qiao Yuan, Chenchen Wang, Jing Ye
BACKGROUND: Observational studies have suggested associations between sedentary behaviors (SB), physical activity (PA), sleep duration (SD), and obesity, but the causal relationships remain unclear. METHODS: We used Mendelian randomization (MR) with genetic variation as instrumental variables (IVs) to assess the causality between SB/PA/SD and obesity. Genetic variants associated with SB/PA/SD were obtained from Genome-wide association study (GWAS), and obesity data came from FinnGen...
2024: PloS One
#34
JOURNAL ARTICLE
Shikuan Lu, Ziyang Ma, Wanzhen Zhou, Hongsen Zeng, Jian Ma, Hang Deng, Peihai Zhang
Background: Previous observational studies have investigated the association between sleep-related traits and male fertility; however, conclusive evidence of a causal connection is lacking. This study aimed to explore the causal relationship between sleep and male fertility using Mendelian randomisation. Methods: Eight sleep-related traits (chronotype, sleep duration, insomnia, snoring, dozing, daytime nap, oversleeping, and undersleeping) and three descriptors representing male fertility (male infertility, abnormal sperm, and bioavailable testosterone levels) were selected from published Genome-Wide Association Studies...
2024: Frontiers in Genetics
#35
JOURNAL ARTICLE
Daisuke Mori, Ryosuke Ikeda, Masahito Sawahata, Sho Yamaguchi, Akiko Kodama, Takashi Hirao, Yuko Arioka, Hiroki Okumura, Chihiro Inami, Toshiaki Suzuki, Yu Hayashi, Hidekazu Kato, Yoshihiro Nawa, Seiko Miyata, Hiroki Kimura, Itaru Kushima, Branko Aleksic, Hiroyuki Mizoguchi, Taku Nagai, Takanobu Nakazawa, Ryota Hashimoto, Kozo Kaibuchi, Kazuhiko Kume, Kiyofumi Yamada, Norio Ozaki
Whole genome analysis has identified rare copy number variations (CNV) that are strongly involved in the pathogenesis of psychiatric disorders, and 3q29 deletion has been found to have the largest effect size. The 3q29 deletion mice model (3q29-del mice) has been established as a good pathological model for schizophrenia based on phenotypic analysis; however, circadian rhythm and sleep, which are also closely related to neuropsychiatric disorders, have not been investigated. In this study, our aims were to reevaluate the pathogenesis of 3q29-del by recreating model mice and analyzing their behavior and to identify novel new insights into the temporal activity and temperature fluctuations of the mouse model using a recently developed small implantable accelerometer chip, Nano-tag...
March 7, 2024: Translational Psychiatry
#36
JOURNAL ARTICLE
Da-Been Lee, Dae Wui Yoon, Inkyung Baik
OBJECTIVES: We investigated the association between metabolic syndrome (MetS) and the coexistence of insomnia and daytime napping, because limited data have been reported regarding this association. METHODS: The study population was 8,440 participants aged 40-65 years, who were from the Korean Genome and Epidemiology Study. Self-reported information on insomnia symptoms and nap duration was used to define exposure variables. Data on waist circumference (WC), blood pressure (BP), and fasting blood glucose (FBG), triglyceride (TG) and high-density lipoprotein cholesterol levels in blood were used to define MetS...
February 20, 2024: Epidemiology and Health
#37
REVIEW
Jinfeng Liu, Jia Zhang, Yajun Shen, Yang Li, Huan Luo, Jing Gan
OBJECTIVE: To explore the clinical characteristics and genetic basis for a child with global developmental delay and autism. METHODS: A child who had presented at West China Second University Hospital of Sichuan University on April 13, 2021 was selected as the study subject. Clinical manifestations, laboratory examination and result of genetic testing were analyzed. RESULTS: The main symptoms of the child had included cognitive, language and motor delay, autism and epilepsy...
March 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#38
JOURNAL ARTICLE
Evaluate the Relationship Between Obstructive Sleep Apnea and Metabolic Syndrome in Real-World Data.
Renzhe Tang, Chong Li, Dongmei Di, Lin Zhou, Yongxiang Qian, Chaohua Qiang, Chao Ma, Rui Zhou, Bin Wang, Min Wang
OBJECTIVE: Obstructive sleep apnea (OSA) is a disorder characterized by disruption in breathing and hypoventilation. In parallel, metabolic syndrome (MetS) mainly co-occur with OSA, however, their association has not been fully elucidated. Therefore, this study aimed to reveal the relationship between OSA and MetS using data from the National Health And Nutrition Examination Survey (NHANES) database and pooled data from Genome-Wide Association Studies (GWAS). MATERIAL AND METHODS: Data from the National Health and Nutrition Examination Survey and pooled data from genome-wide association analysis (GWAS) were used univariate and multivariate logistic regression analyses were carried out to evaluate the correlation between OSA and MetS, and multivariate logistic regression models were utilized for adjusting for potential confounders...
2024: Nature and Science of Sleep
#39
JOURNAL ARTICLE
Xiao-Bin Zhang, He-He Jiang, Lin-Lin Zhang, Chun-Jing Li, Chen Chen, Meng-Zhen Xing, Yu-Ning Ma, Yu-Xia Ma
BACKGROUND: Myopia is the most prevalent refractive error and a growing global health concern that significantly affects visual function. Researchers have recently emphasized considerably on the influence of lifestyle on myopia incidence and development. This study investigates the relationship between leisure sedentary behaviors (LSB)/physical activity (PA)/sleep traits and myopia. METHODS: LSB, PA, and sleep trait-associated genetic variants were used as instrument variables in a Mendelian randomization (MR) study to examine their causal effects on myopia...
March 5, 2024: BMC Ophthalmology
#40
JOURNAL ARTICLE
Xiao Wang, Shaoming Song, Na Dong, Renjun Lv, Yao He, Yan Zhao, Hongmei Yue
OBJECTIVE: Numerous studies have reported the close association of depression with obstructive sleep apnea (OSA). However, the causal nature and direction remain unclear. This study aimed to identify the genetic causal relationship between depression and OSA using Mendelian randomization (MR). METHODS: Based on publicly available genome-wide association studies data of depression and OSA, we conducted a bidirectional two-sample MR study. The inverse-variance weighted (IVW) was used as the main analysis method...
February 20, 2024: Journal of Psychosomatic Research
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