Genetic Aspects of the Obstructive Sleep Apnoea/Hypopnoea Syndrome – Is There a Common Link with Obesity?

Riha, Renata L.

doi:10.1159/000221903

Cited by 30 publications

(26 citation statements)

References 210 publications

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“…These criteria were applied strictly to exclude these variables -and others -which affect upper airway patency. Thus, when the BMI was compared with the genotypes of both polymorphisms in index cases and controls, the BMI from 25 to 35 kg/m 2 was related significantly with the -1438G/A polymorphism genotypes in index cases; this result concurs with those of the literature, 8,9,25 as it results from more cases in this BMI range rather than the effect of the polymorphism.…”

supporting

confidence: 89%

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Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome

Piatto

Carvalho

Marchi

et al. 2011

Braz. j. otorhinolaryngol. (Impr.)

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Obstructive sleep apnea syndrome (OSAS) is one of the most complex disorders of sleep; it involves several genetic factors that contribute to the phenotype. Serotonin (5-HT) regulates a variety of visceral and physiological functions, including sleep. Gene 5-HTR2A polymorphisms may change the transcription of several receptors in the serotoninergic system, thereby contributing to OSAS. Aim To investigate the prevalence of T102C and -1438G/A polymorphisms in the 5-HTR2A gene of patients with and without OSAS. Material and Method A molecular study of 100 index-cases and 100 controls of both genders. DNA was extracted from blood leukocytes samples and the regions that enclose both polymorphisms were amplified with PCR-RFLP. Study design A cross-sectional case study. Results There was a significant prevalence of males in index cases compared to controls (p<0.0001). No significant genotypic differences between cases and controls were found in T102C polymorphisms ( p =1.000). There were significant differences between the AA genotype of -1438G/A polymorphisms and patients with OSAS (OR:2.3; CI95%:1.20-4.38, p =0.01). Conclusion Serotonergic mechanisms may be related to OSAS. There were no differences in the prevalence of T102C polymorphisms in patients with OSAS and the control group. There is evidence of an association between the -1438G/A polymorphism and OSAS.

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confidence: 89%

“…[25][26][27] Genes are probably les involved in changes of state (non-REM->REM) that are seen electrophysiologically during the sleep cycle; rather, genes are certainly related with the circadian rhythm and sleep homeostasis. 28 The most common sleep disorders result from the interaction of several genes and environmental factors.…”

mentioning

confidence: 99%

Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome

Piatto

Carvalho

Marchi

et al. 2011

Braz. j. otorhinolaryngol. (Impr.)

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“…With this background, the role played by OSA in the pathogenesis of metabolic abnormalities in adults and children will be briefly reviewed, together with the effects of OSA treatment. As for genetic interactions between OSA and obesity, which were also discussed during the seminar, the interested reader is referred to several recently published reviews [41][42][43].…”

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confidence: 99%

Adipose tissue in obesity and obstructive sleep apnoea

Bonsignore¹,

McNicholas²,

Montserrat³

et al. 2011

Eur Respir J

116

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A European Respiratory Society research seminar on ''Metabolic alterations in obstructive sleep apnoea (OSA)'' was jointly organised in October 2009 together with two EU COST actions (Cardiovascular risk in the obstructive sleep apnoea syndrome, action B26, and Adipose tissue and the metabolic syndrome, action BM0602) in order to discuss the interactions between obesity and OSA.Such interactions can be particularly significant in the pathogenesis of metabolic abnormalities and in increased cardiovascular risk in OSA patients. However, studying the respective role of OSA and obesity is difficult in patients, making it necessary to refer to animal models or in vitro systems. Since most OSA patients are obese, their management requires a multidisciplinary approach.This review summarises some aspects of the pathophysiology and treatment of obesity, and the possible effects of sleep loss on metabolism. OSA-associated metabolic dysfunction (insulin resistance, liver dysfunction and atherogenic dyslipidaemia) is discussed from the perspective of both obesity and OSA in adults and children.Finally, the effects of treatment for obesity or OSA, or both, on cardio-metabolic variables are summarised. Further interdisciplinary research is needed in order to develop new comprehensive treatment approaches aimed at reducing sleep disordered breathing, obesity and cardiovascular risk.

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“…OSA is also mediated by environmental factors, most obviously through those that link it to related traits such as obesity 17 , but which may include influences associated with irritant exposures, alcohol use and sleep deprivation. Efforts to identify genetic variants related to OSA, include family as well as genome-wide, case-control studies and are an important attempt to provide diagnostic and/or prognostic information related to the disease.…”

Section: Introductionmentioning

confidence: 99%

Systems Biology Analyses of Gene Expression and Genome Wide Association Study Data in Obstructive Sleep Apnea

Liu¹,

Patel²,

Nibbe³

et al. 2010

Biocomputing 2011

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The precise molecular etiology of obstructive sleep apnea (OSA) is unknown; however recent research indicates that several interconnected aberrant pathways and molecular abnormalities are contributors to OSA. Identifying the genes and pathways associated with OSA can help to expand our understanding of the risk factors for the disease as well as provide new avenues for potential treatment. Towards these goals, we have integrated relevant high dimensional data from various sources, such as genome-wide expression data (microarray), protein-protein interaction (PPI) data and results from genome-wide association studies (GWAS) in order to define sub-network elements that connect some of the known pathways related to the disease as well as define novel regulatory modules related to OSA. Two distinct approaches are applied to identify sub-networks significantly associated with OSA. In the first case we used a biased approach based on sixty genes/proteins with known associations with sleep disorders and/or metabolic disease to seed a search using commercial software to discover networks associated with disease followed by information theoretic (mutual information) scoring of the sub-networks. In the second case we used an unbiased approach and generated an interactome constructed from publicly available gene expression profiles and PPI databases, followed by scoring of the network with p-values from GWAS data derived from OSA patients to uncover sub-networks significant for the disease phenotype. A comparison of the approaches reveals a number of proteins that have been previously known to be associated with OSA or sleep. In addition, our results indicate a novel association of Phosphoinositide 3-kinase, the STAT family of proteins and its related pathways with OSA.

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Genetic Aspects of the Obstructive Sleep Apnoea/Hypopnoea Syndrome – Is There a Common Link with Obesity?

Cited by 30 publications

References 210 publications

Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome

Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome

Adipose tissue in obesity and obstructive sleep apnoea

Systems Biology Analyses of Gene Expression and Genome Wide Association Study Data in Obstructive Sleep Apnea

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