Obstructive sleep apnoea syndrome and genes
Kaparianos, A.; Sampsonas, F.; Karkoulias, K.; Spiropoulos, K.
Netherlands Journal of Medicine 64(8): 280-289
2006
ISSN/ISBN: 0300-2977 PMID: 16990691 Document Number: 602002
Obstructive sleep apnoea (OSA) is a complex disease entity strongly influenced by genetic factors, especially those that affect obesity and fat distribution, upper airway muscle tone, craniofacial morphology, ventilatory control and sleep, giving rise to the OSA phenotype. OSA can also be considered a metabolic syndrome which adversely affects multiple organ systems, especially the cardiovascular system and the brain. The most widely used clinical marker for the diagnosis of OSA is the apnoea-hypopnoea index, calculated by polysomnography. A percentage Of 35 to 40% Of its variance can be attributed to genetic factors. Therefore, the identification and elucidation of the genes implicated in the pathogenesis of OSA becomes a matter of extensive research and could lead to the development of therapeutic agents that can have a beneficial effect on the natural course of OSA.