title: Whole blood hypoxia-related gene expression reveals novel pathways to obstructive sleep apnea in humans.
abstract: In this study, our goal was to identify the key genes that are associated with obstructive sleep apnea (OSA). Thirty-five volunteers underwent full in-lab polysomnography and, according to the sleep apnea hypopnea index (AHI), were classified into control, mild-to-moderate OSA and severe OSA groups. Severe OSA patients were assigned to participate in a continuous positive airway pressure (CPAP) protocol for 6 months. Blood was collected and the expression of 84 genes analyzed using the RT(2) Profiler™ PCR array. Mild-to-moderate OSA patients demonstrated down-regulation of 2 genes associated with induction of apoptosis, while a total of 13 genes were identified in severe OSA patients. After controlling for body mass index, PRPF40A and PLOD3 gene expressions were strongly and independently associated with AHI scores. This research protocol highlights a number of molecular targets that might help the development of novel therapeutic strategies.
authors.affiliation: Departamento de Psicobiologia, Universidade Federal de São Paulo, Brazil. Electronic address: julianaciniperry@gmail.com.
authors.forename: Juliana C
authors.initials: JC
authors.lastname: Perry
authors.forename: Camila
authors.initials: C
authors.lastname: Guindalini
authors.forename: Lia
authors.initials: L
authors.lastname: Bittencourt
authors.forename: Silverio
authors.initials: S
authors.lastname: Garbuio
authors.forename: Diego R
authors.initials: DR
authors.lastname: Mazzotti
authors.forename: Sergio
authors.initials: S
authors.lastname: Tufik
mesh_terms: D000704:Analysis of Variance; D015992:Body Mass Index; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D045422:Continuous Positive Airway Pressure / Q000379:methods; D005260:Female; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation / Q000502:physiology*; D053263:Gene Regulatory Networks; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D017286:Polysomnography; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / Q000235:genetics / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism; D020181:Sleep Apnea, Obstructive / Q000097:blood / Q000378:metabolism* / Q000628:therapy
chemical_list: D002352:Carrier Proteins; C491404:PRPF40A protein, human; D012333:RNA, Messenger; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
keywords: CPAP; Gene expression; Hypoxia; Obstructive sleep apnea; Sleep