🔥🔥🔥 Case 8.5 Surprising Facts About Sleep Apnea

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Case 8.5 Surprising Facts About Sleep Apnea

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Insomnia vs. Sleep Apnea: What's the Difference?

OSA is a multi-factorial and highly prevalent disorder in which both genetic and environmental factors may be involved [ 54 , 55 ]. The role of specific genes that influence the development of OSA is unclear. A precise genetic foundation of OSA has been thus far difficult to identify, because it is still unknown whether some of the putative candidate genes for OSA are directly causal to the expression of the disorder or whether their role in OSA is mediated through other intermediate genes.

Similarly, the phenotypic expression of OSA and its consequences is most likely determined by multiple genetic and environmental factors and their interactions. Some of the factors assumed to operate as intrinsic genetic determinants of susceptibility [ 56 — 58 ] have been shown to include inflammatory pathways, lipid membrane transport, and growth factors [ 58 ]. Additional external factors that have yet to be corroborated in clinical pediatric cohorts include lifestyle components, such as physical activity, and dietary habits.

In this study, we used SNPs from different genes and pathways to study the association of their allelic frequencies in children with OSA. For example, several polymorphisms located in NOS1 , NOS2 , and NOS3 genes have been identified; some of these polymorphic sites could be responsible for variations in the genetic control of plasma NOS levels, which would be a useful tool for studying the relationship between NOS and diseases including asthma [ 64 , 65 ], depressive disorder [ 66 ], Parkinson's disease [ 67 ], diabetic nephropathy [ 68 ], and stroke [ 69 ]. We are only aware of a single published report on genetic polymorphisms in endothelin-receptor-subtype-a-gene as a susceptibility factor for adult OSA [ 32 ].

Endothelin-1 EDN1 is an intercellular signaling molecule expressed in many different organ systems and tissues. Although EDN1 is best known as a potent vasoconstrictor, EDN1 also plays important roles in the kidney, nervous system, and in the heart [ 71 ]. Furthermore, genetic polymorphisms in the EDN1 promoter region have been linked to an increased incidence of left ventricular hypertrophy [ 72 ], and asthma [ 73 ], a known consequence of OSA in children [ 74 ]. The increased expression of EDN1 among children with OSA in the present study would further suggest that genotype-phenotype interactions may indeed be present in pediatric OSA and its cardiovascular morbidities.

Indeed, several lines of evidence derived from both clinical studies and animal models have shown that increases in circulating EDN1 in OSA [ 75 — 77 ]. The susceptibility to OSA is a multifactorial process and may result from genetic variants in many genes on different chromosomes. Also, genetic epidemiological studies of biological phenotypes involved in the same pathway can provide relevant information, and can contribute to unravel the mechanisms underlying complex diseases such as OSA. Thus, analysis of the currently identified EDN1 polymorphism may be useful in the assessment of risk for OSA in a high risk population, such as those children who manifest snoring or have enlarged tonsils and adenoids.

Further studies should be carried out to confirm the association reported herein in expanded pediatric cohorts, and tentatively include protein and gene expression levels to enable deciphering the importance and functionality of these genetic factors. Punjabi NM: The epidemiology of adult obstructive sleep apnea. Proc Am Thorac Soc. Sleep medicine reviews. Article PubMed Google Scholar.

Gozal D: Morbidity of obstructive sleep apnea in children: facts and theory. Sleep Breath. Gozal D, Capdevila OS, Kheirandish-Gozal L: Metabolic alterations and systemic inflammation in obstructive sleep apnea among nonobese and obese prepubertal children. Gozal D, Kheirandish-Gozal L: Cardiovascular morbidity in obstructive sleep apnea: oxidative stress, inflammation, and much more. Antioxid Redox Signal. Lurie A: Cardiovascular disorders associated with obstructive sleep apnea. Advances in cardiology. Current atherosclerosis reports. Lancet Respir Med. In collaboration with the national heart, lung, and blood institute national center on sleep disorders research national institutes of health. Nitric Oxide.

Clin Chim Acta. Kidney Int. Mol Genet Metab. Bohm F, Pernow J: The importance of endothelin-1 for vascular dysfunction in cardiovascular disease. Cardiovascular res. Article Google Scholar. A case—control study. Eur Heart J. Am J Hypertens. Molecular vision. J Hum Hypertens. Acta physiologica. Google Scholar. Sleep medicine. Rechtschaffen A, Kales A: A manual of standardized terminology, techniques and scoring system for sleep stages of human subjects. Deliberations of the sleep apnea definitions task force of the American academy of sleep medicine. J Clin Sleep Med. BMC pediatrics. Wahlberg E, Olofsson P, Swendenborg J, Fagrell B: Changes in postocclusive reactive hyperaemic values as measured with laser Doppler fluxmetry after infrainguinal arterial reconstructions.

Eur J Vasc Endovasc Surg. PLoS One. Methods San Diego, Calif. Lewontin RC: On measures of gametic disequilibrium. Am J Hum Genet. Pharmacol Ther. Eur J Endocrinol. Pediatr Pulmonol. J Pediatr. Respir Med. Eur Respir J. Zintzaras E: he generalized odds ratio as a measure of genetic risk effect in the analysis and meta-analysis of association studies. Stat Appl Genet Mol Biol. Zintzaras E, Santos M: Estimating the mode of inheritance in genetic association studies of qualitative traits based on the degree of dominance index.

Neth J Med. Prog Cardiovasc Dis. Atkeson A, Jelic S: Mechanisms of endothelial dysfunction in obstructive sleep apnea. Vasc Health Risk Manag. Gozal D: Sleep, sleep disorders and inflammation in children. Sleep med. Physiology Eur Respir J. Lipids Health Dis. Rev Neurol. PubMed Google Scholar. J Affect Disord. Human genetics. Levin ER: Endothelins. N Engl J Med. Physiol Rev. Ann Hum Genet. Genes and immunity. Ci S, Li H, Song H: [Effects of blood pressure day-nocturnal rhythm and endothelin in patients of sleep apnea syndrome]. Download references.

You can also search for this author in PubMed Google Scholar. SC performed data analysis, and qRT-PCR validation, DG provided the conceptual design of the project, participated in the data analysis and editing final version of the manuscript, L K-G participated in data analysis and sleep studies, RB participated in clinical data, AAK participated in data analysis and haploview, YW reviewed data, WS participated in general discussion and review data, and AK carried data analysis, overall the project and SNPs analysis, writing and editing manuscript. All authors read and approved the final manuscript. Reprints and Permissions.

Chatsuriyawong, S. Polymorphisms in nitric oxide synthase and endothelin genes among children with obstructive sleep apnea. BMC Med Genomics 6, 29 Download citation. Received : 27 May Accepted : 29 August Published : 06 September We have employed highly qualified writers. They are all specialized in specific fields. To ensure our writers are competent, they pass through a strict screening and multiple testing. All our writers are graduates and professors from the most prestigious universities and colleges in the world. We have writers who are native speakers and non-native speakers. Our writers have great grammar skills. Being one of the largest online companies in the world providing essay writing services, we offer many academic writing services.

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