Genome-Wide Association Studies in Obstructive Sleep Apnea. Will We Catch a Black Cat in a Dark Room?
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SUBMITTER: Pham LV
PROVIDER: S-EPMC5074656 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Publications
Genome-Wide Association Studies in Obstructive Sleep Apnea. Will We Catch a Black Cat in a Dark Room?
Pham Luu V LV Polotsky Vsevolod Y VY
American journal of respiratory and critical care medicine 20161001 7
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Project description:Rationale: Obstructive sleep apnea (OSA) has been associated with metabolic dysregulation and systemic inflammation. This may be due to pathophysiologic effects of OSA on visceral adipose tissue. We sought to assess the transcriptional consequences of OSA on adipocytes by utilizing pathway-focused analyses. Methods: Patients scheduled to undergo ventral hernia repair surgery were recruited to wear a portable home sleep monitor for two nights prior to surgery. Visceral fat biopsies were obtained intra-operatively. RNA was extracted and whole-genome expression profiling was performed. Gene Set Enrichment Analysis (GSEA) was used to identify curated gene sets that were differentially enriched in OSA subjects. Network analysis was applied to a select set of highly enriched pathways. Results: 10 patients with OSA and 8 control subjects were recruited. There were no differences in age, gender, body mass index between the two groups, but the OSA subjects had a significantly higher respiratory disturbance index (19.2 vs. 0.6, P-value 0.05) and worse hypoxemia (minimum oxygen saturation 79.7% vs. 87.8%, P-value < 0.001). GSEA identified a number of gene sets up-regulated in adipose tissue of OSA patients including the pro-inflammatory NF-M-NM-:B pathway and the proteolytic ubiquitin/proteasome module. A critical metabolic pathway, the peroxisome proliferator-activated receptor (PPAR), was down-regulated in subjects with OSA. Network analysis linked members of these modules together and identified regulatory hubs. Conclusions: OSA is associated with alterations in visceral fat gene expression. Pathway-based network analysis highlighted perturbations in several key pathways whose coordinated interactions may contribute to the metabolic dysregulation observed in this complex disorder. Total RNA from visceral fat of 18 subjects (10 OSA, 8 Control) was hybridized to 18 Affymetrix Genechip Human Gene 1.0 ST microarrays.
2012-09-01 | E-GEOD-38792 | biostudies-arrayexpress
Project description:Rationale: Obstructive sleep apnea (OSA) has been associated with metabolic dysregulation and systemic inflammation. This may be due to pathophysiologic effects of OSA on visceral adipose tissue. We sought to assess the transcriptional consequences of OSA on adipocytes by utilizing pathway-focused analyses. Methods: Patients scheduled to undergo ventral hernia repair surgery were recruited to wear a portable home sleep monitor for two nights prior to surgery. Visceral fat biopsies were obtained intra-operatively. RNA was extracted and whole-genome expression profiling was performed. Gene Set Enrichment Analysis (GSEA) was used to identify curated gene sets that were differentially enriched in OSA subjects. Network analysis was applied to a select set of highly enriched pathways. Results: 10 patients with OSA and 8 control subjects were recruited. There were no differences in age, gender, body mass index between the two groups, but the OSA subjects had a significantly higher respiratory disturbance index (19.2 vs. 0.6, P-value 0.05) and worse hypoxemia (minimum oxygen saturation 79.7% vs. 87.8%, P-value < 0.001). GSEA identified a number of gene sets up-regulated in adipose tissue of OSA patients including the pro-inflammatory NF-κB pathway and the proteolytic ubiquitin/proteasome module. A critical metabolic pathway, the peroxisome proliferator-activated receptor (PPAR), was down-regulated in subjects with OSA. Network analysis linked members of these modules together and identified regulatory hubs. Conclusions: OSA is associated with alterations in visceral fat gene expression. Pathway-based network analysis highlighted perturbations in several key pathways whose coordinated interactions may contribute to the metabolic dysregulation observed in this complex disorder.
2012-09-01 | GSE38792 | GEO
Project description:This SuperSeries is composed of the SubSeries listed below.
2024-12-02 | GSE237282 | GEO
Project description:Obstructive Sleep Apnea (OSA) is a common sleep-related breathing disorder characterized by airway obstruction during sleep. Diagnosing pediatric OSA is challenging, particularly in underrepresented populations, leading to disparities in treatment and long-term negative health outcomes. Our study aimed to identify alternative diagnostic tools by investigating genome-wide epigenetic changes and associated transcriptomic alterations in Black female, pediatric patients with OSA. Whole-genome bisulfite sequencing and RNA sequencing were performed on saliva samples from healthy controls and children with OSA. Analysis of differential methylation and gene expression patterns revealed dysregulated inflammation and metabolism pathways in children with OSA. Chromosomes 19 and 22 exhibited elevated methylation signatures in this patient population. Integration of methylation and gene expression data identified specific molecular markers, including NAP1L4, CCR1, and LIF. The study emphasizes the need to consider both genetic and environmental factors in pediatric OSA, and the identified markers may offer avenues for further research.
| S-EPMC11665405 | biostudies-literature
Project description:IntroductionLung to finger circulation time (LFCT) can be estimated from polysomnography (PSG) in the presence of an apneic event by using oxygen as an indicator and a finger as the site of detection. The purpose of this study was to refine the methodology of LFCT measurement and to compare LFCT in patients with obstructive sleep apnea (OSA) with and without heart failure (HF).MethodsIn a retrospective manner, 10 LFCT measurements per patient were made from the PSG in 171 consecutive patients with a diagnosis of OSA who were divided into two groups: (a) those with a clinical history of underlying HF (N = 42) and (b) those without HF (N = 129). Mean values were compared between the two groups. We also examined associations of LFCT with various factors in each group and the combined group separately using multiple regression analysis.ResultsGender and age were significantly associated with LFCT in patients with OSA alone. Use of β-blockers was associated with LFCT in the group with OSA with HF. Among the entire cohort, HF, β-blocker, gender, and age were found to be significantly associated with LFCT. The presence of HF was the strongest predictor of a prolonged LFCT (adjusted mean LFCT: OSA only = 18.5 [95% CI: 17.2-19.7 sec] vs. OSA with HF = 26.1 [95% CI: 24.3-28.0 sec], p < 0.0001).ConclusionLFCT can be reliably measured and is prolonged in patients with OSA and underlying HF. LFCT based on PSG may be a useful marker for detection of coexisting HF in patients with OSA.
| S-EPMC4067439 | biostudies-literature
Project description:This study explores the epigentic and transcriptomic changes associated with pediatric obstructive sleep apnea in Black female patients. By analyzing saliva samples, the study identifies dysregulated pathways and specific molecular markers, emphasizing the need for accessible diagnostic tools and addressing healthcare disparities in underrepresented population. The non-invasive approach using saliva samples offers potential for future research and improved diagnostics for pediatric OSA.
2024-12-02 | GSE237279 | GEO
Project description:This study explores the epigentic and transcriptomic changes associated with pediatric obstructive sleep apnea in Black female patients. By analyzing saliva samples, the study identifies dysregulated pathways and specific molecular markers, emphasizing the need for accessible diagnostic tools and addressing healthcare disparities in underrepresented population. The non-invasive approach using saliva samples offers potential for future research and improved diagnostics for pediatric OSA.
2024-12-02 | GSE237281 | GEO
Project description:BackgroundObstructive sleep apnea frequently persists in children following adenotonsillectomy, which is the first-line treatment recommended for obstructive sleep apnea with adenotonsillar hypertrophy. Drug-induced sleep endoscopy (DISE) is a diagnostic tool increasingly used to assess pediatric obstructive sleep apnea, but its use has not been standardized. The overarching goal of this study was to document the current practice of Canadian otolaryngologists managing this population.MethodsA nation-wide online cross-sectional survey of Canadian otolaryngologist members of the Canadian Society of Otolaryngology - Head and Neck Surgery and the Association d'otorhinolaryngologie et chirurgie cervico-faciale du Québec. The 58-question electronic survey was developed based on a validated survey redaction guide with the aim to assess management and treatment of pediatric obstructive sleep apnea, as well as indications and performance of DISE. Consensus on practice items was defined by a minimum of 75% similar answers.ResultsOne hundred and nine Canadian otolaryngologists completed the survey on management of pediatric obstructive sleep apnea, among which 12 of them completed the questions on DISE. Overall, there was a poor rate of agreement of 55% among the respondents for the 58 questions altogether. There was a consensus to assess pediatric obstructive sleep apnea clinically ± with videos (82.6%), to assess adenotonsillar hypertrophy clinically (93.6%) and with flexible scope in the office (80.7%), as well as for the airway sites examined endoscopically during DISE. However, there was no consensus regarding anesthetic protocol and scoring system. DISE was mostly performed in cases of persistent obstructive sleep apnea after adenotonsillectomy rather than before performing any surgical procedure. There was no difference in the management of obstructive sleep apnea between otolaryngologists who perform DISE and those who do not. The only difference between otolaryngologists who practice in community centers versus in tertiary care centers was the more frequently use of the Brodsky tonsil scale by the latter ones.ConclusionThis Canadian-wide survey highlighted a lack of consensus in the management of pediatric obstructive sleep apnea and DISE. Certain aspects regarding DISE remain unclear, including establishment of its ideal timing in order to eventually avoid unnecessary tonsillectomies.
| S-EPMC8408936 | biostudies-literature
Project description:Illumina MiSeq next generation sequencing chip was used to identify differentially expressed miRs by comparing peripheral blood mononuclear cell samples between OSA patients and healthy non-snorers.
2021-12-01 | GSE174245 | GEO
Project description:Study objectivesThe aim of the study was to investigate the effect of ambient temperature on sleep, sleep apnea, and morning alertness in patients with obstructive sleep apnea.DesignRandomized controlled trial.SettingIn-hospital investigations.ParticipantsForty patients with obstructive sleep apnea naïve to treatment, with an apnea-hypopnea index of 10-30.InterventionsThree different nights in room temperatures of 16°C, 20°C, and 24°C.MeasurementsOvernight polysomnography and Karolinska Sleepiness Scale.ResultsThe obstructive apnea-hypopnea index was 30 ± 17 at 16°C room temperature, 28 ± 17 at 20°C, and 24 ± 18 at 24°C. The obstructive apnea-hypopnea index was higher at 16°C room temperature versus 24°C (P = 0.001) and at 20°C room temperature versus 24°C (P = 0.033). Total sleep time was a mean of 30 min longer (P = 0.009), mean sleep efficiency was higher (77 ± 11% versus 71 ± 13% respectively, P = 0.012), and the patients were significantly more alert according to the Karolinska Sleepiness Scale (P < 0.028) in the morning at 16°C room temperature versus 24°C. The amount of sleep in different sleep stages was not affected by room temperature.ConclusionsUntreated patients with obstructive sleep apnea sleep longer, have better sleep efficiency, and are more alert in the morning after a night's sleep at 16°C room temperature compared with 24°C, but obstructive sleep apnea is more severe at 16°C and 20°C compared with 24°C.Clinical trial informationThis study is registered in ClinicalTrials.gov number NCT00544752.
| S-EPMC3296793 | biostudies-literature