Hdl Handle:
http://hdl.handle.net/10147/207574
Title:
The genetics of obstructive sleep apnoea.
Authors:
Kent, Brian D; Ryan, Silke; McNicholas, Walter T
Affiliation:
Pulmonary and Sleep Disorders Unit, St Vincent's University Hospital, Dublin,, Ireland.
Citation:
Curr Opin Pulm Med. 2010 Nov;16(6):536-42.
Journal:
Current opinion in pulmonary medicine
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207574
DOI:
10.1097/MCP.0b013e32833ef7fe
PubMed ID:
20814305
Abstract:
PURPOSE OF REVIEW: Obstructive sleep apnoea syndrome (OSAS) is a highly prevalent disorder associated with reduced quality of life and adverse cardiovascular and metabolic sequelae. Recent years have seen an intensification of the research effort to establish the genetic contribution to the development of OSAS and its sequelae. This review explores emerging evidence in this field. RECENT FINDINGS: A genetic basis for sleep-disordered breathing has been demonstrated for discrete disorders such as Treacher-Collins and Down syndromes, but the picture is less clear in so-called idiopathic OSAS. A degree of heritability appears likely in some of the intermediate phenotypes that lead to OSAS, particularly craniofacial morphology. However, only sparse and often contradictory evidence exists regarding the role of specific polymorphisms in causing OSAS in the general population. Similarly, investigations of the cardiovascular sequelae of OSAS have in general failed to consistently find single causative genetic mutations. Nonetheless, evidence suggests a role for tumour necrosis factor-alpha polymorphisms in particular, and large-scale family studies have suggested shared pathogenetic pathways for the development of obesity and OSAS. SUMMARY: As with other common disorders, OSAS is likely to result from multiple gene-gene interactions occurring in a suitable environment. The application of modern genetic investigative techniques, such as genome-wide association studies, may facilitate new discoveries in this field.
Language:
eng
MeSH:
Cardiovascular Diseases/epidemiology; Humans; Mutation/*genetics; Polymorphism, Genetic/*genetics; Risk Factors; Sleep Apnea, Obstructive/*genetics; Tumor Necrosis Factor-alpha/genetics
ISSN:
1531-6971 (Electronic); 1070-5287 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorKent, Brian Den_GB
dc.contributor.authorRyan, Silkeen_GB
dc.contributor.authorMcNicholas, Walter Ten_GB
dc.date.accessioned2012-02-01T10:31:46Z-
dc.date.available2012-02-01T10:31:46Z-
dc.date.issued2012-02-01T10:31:46Z-
dc.identifier.citationCurr Opin Pulm Med. 2010 Nov;16(6):536-42.en_GB
dc.identifier.issn1531-6971 (Electronic)en_GB
dc.identifier.issn1070-5287 (Linking)en_GB
dc.identifier.pmid20814305en_GB
dc.identifier.doi10.1097/MCP.0b013e32833ef7feen_GB
dc.identifier.urihttp://hdl.handle.net/10147/207574-
dc.description.abstractPURPOSE OF REVIEW: Obstructive sleep apnoea syndrome (OSAS) is a highly prevalent disorder associated with reduced quality of life and adverse cardiovascular and metabolic sequelae. Recent years have seen an intensification of the research effort to establish the genetic contribution to the development of OSAS and its sequelae. This review explores emerging evidence in this field. RECENT FINDINGS: A genetic basis for sleep-disordered breathing has been demonstrated for discrete disorders such as Treacher-Collins and Down syndromes, but the picture is less clear in so-called idiopathic OSAS. A degree of heritability appears likely in some of the intermediate phenotypes that lead to OSAS, particularly craniofacial morphology. However, only sparse and often contradictory evidence exists regarding the role of specific polymorphisms in causing OSAS in the general population. Similarly, investigations of the cardiovascular sequelae of OSAS have in general failed to consistently find single causative genetic mutations. Nonetheless, evidence suggests a role for tumour necrosis factor-alpha polymorphisms in particular, and large-scale family studies have suggested shared pathogenetic pathways for the development of obesity and OSAS. SUMMARY: As with other common disorders, OSAS is likely to result from multiple gene-gene interactions occurring in a suitable environment. The application of modern genetic investigative techniques, such as genome-wide association studies, may facilitate new discoveries in this field.en_GB
dc.language.isoengen_GB
dc.subject.meshCardiovascular Diseases/epidemiologyen_GB
dc.subject.meshHumansen_GB
dc.subject.meshMutation/*geneticsen_GB
dc.subject.meshPolymorphism, Genetic/*geneticsen_GB
dc.subject.meshRisk Factorsen_GB
dc.subject.meshSleep Apnea, Obstructive/*geneticsen_GB
dc.subject.meshTumor Necrosis Factor-alpha/geneticsen_GB
dc.titleThe genetics of obstructive sleep apnoea.en_GB
dc.contributor.departmentPulmonary and Sleep Disorders Unit, St Vincent's University Hospital, Dublin,, Ireland.en_GB
dc.identifier.journalCurrent opinion in pulmonary medicineen_GB
dc.description.provinceLeinster-

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