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Genetic aspects of the obstructive sleep apnoea-hypopnoea syndrome

Genetische Aspekte des obstruktiven Schlafapnoe-Hypopnoe-Syndroms

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Summary

Obstructive sleep apnoea-hypopnoea syndrome (OSAHS) is a common condition affecting approximately 0.3–4% of the middle-aged population. A hereditary component to the condition has long been identified but the genetic basis has been difficult to elucidate. Not least of the difficulties resides in a single definition of the phenotype. In an attempt to unravel some of the components, which might contribute to the expression of the syndrome, ‘intermediate phenotypes’ such as craniofacial structure, obesity, and upper airway control have been utilised. A number of gene polymorphisms have been explored in association with these, and two genome-wide scans have identified potential regions that may be of interest in further defining the ‘intermediate phenotypes’. This paper focuses largely on human studies with an update on the most recent work in the area. A short discussion on methods of genetic studies is also provided.

Zusammenfassung

Das obstruktive Schlafapnoe-Hypopnoe-Syndrom (OSAHS) betrifft ca. 0,3–4% der Bevölkerung im mittleren Alter. Ein erblicher Zusammenhang wurde vor langem erkannt, aber die Erklärung der genetischen Grundlage blieb schwierig. Die Schwierigkeiten liegen in einer einheitlichen Definition des Phänotypus. In der Bemühung, einige der Faktoren zu bestimmen, die zur Entstehung des Syndroms beitragen, wurden „Zwischenphänotypen” wie kraniofaziale Struktur, Obesitas und Kontrolle der oberen Atemwege verwendet. Eine Reihe von Genpolymorphien wurde in diesem Zusammenhang erforscht und anhand zweier genomweiter Scans wurden mögliche Regionen identifiziert, die für die genauere Definition der „Zwischenphänotypen” von Interesse sein könnten. Der Artikel konzentriert sich weitgehend auf Humanstudien unter Berücksichtigung jüngster Arbeiten in diesem Bereich. Eine kurze Erörterung der Methoden bei Genetikstudien wird ebenfalls erbracht.

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  1. Department of Sleep Medicine, Royal Infirmary Edinburgh, 51 Little France Crescent, Little France EH16 4SA, Edinburgh, Scotland

    Renata L. Riha (Consultant in Sleep and General Medicine)

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Riha, R.L. Genetic aspects of the obstructive sleep apnoea-hypopnoea syndrome. Somnologie 10, 101–112 (2006). https://doi.org/10.1111/j.1439-054X.2006.00092.x

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