AffiliationPulmonary and Sleep Disorders Unit, St Vincent's University Hospital, Dublin,, Ireland.
Sleep Apnea, Obstructive/*genetics
Tumor Necrosis Factor-alpha/genetics
MetadataShow full item record
CitationCurr Opin Pulm Med. 2010 Nov;16(6):536-42.
JournalCurrent opinion in pulmonary medicine
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.
- Frequency of distribution of inflammatory cytokines IL-1, IL-6 and TNF-alpha gene polymorphism in patients with obstructive sleep apnea.
- Authors: Popko K, Gorska E, Potapinska O, Wasik M, Stoklosa A, Plywaczewski R, Winiarska M, Gorecka D, Sliwinski P, Popko M, Szwed T, Demkow U
- Issue date: 2008 Dec
- Obstructive sleep apnea syndrome is a systemic disease. Current evidence.
- Authors: Zamarron C, García Paz V, Riveiro A
- Issue date: 2008 Oct
- Obstructive sleep apnoea syndrome and genes.
- Authors: Kaparianos A, Sampsonas F, Karkoulias K, Spiropoulos K
- Issue date: 2006 Sep
- Association of GABA(B)R1 receptor gene polymorphism with obstructive sleep apnea syndrome.
- Authors: Bayazit YA, Yilmaz M, Kokturk O, Erdal ME, Ciftci T, Gokdogan T, Kemaloglu Y, Ileri F
- Issue date: 2007
- Systemic inflammation: a key factor in the pathogenesis of cardiovascular complications in obstructive sleep apnoea syndrome?
- Authors: Ryan S, Taylor CT, McNicholas WT
- Issue date: 2009 Jul