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SEVERE ASTHMA SERIES
Genetic and environmental influences in obstructive sleep apnoea hypopnoea syndrome
Sophia Schiza 1
,
 
Izolde Bouloukaki 2
,
 
Νikolaos M. Siafakas 3
 
 
 
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1
Assistant Professor in Thoracic Medicine, Department of Thoracic Medicine, Medical School, University of Crete
 
2
Family Medicine Resident, Department of Thoracic Medicine, Medical School, University of Crete
 
3
Professor in Thoracic Medicine, Department of Thoracic Medicine, Medical School, University of Crete
 
 
Corresponding author
Sophia Schiza   

Dept. of Thoracic Medicine University General Hospital 71110 Heraklion Crete, Greece
 
 
Pneumon 2012;25(1):114-119
 
Article (PDF)
References (66)
 
KEYWORDS
obstructive sleep apnea hypopnea syndrome
 genetic factors
 phenotype
 multifactorial disease
 
ABSTRACT
Obstructive sleep apnoea hypopnoea syndrome (OSAHS) is a multifactorial and complex disease. There is a growing body of evidence demonstrating that genetic factors influence the expression of OSAHS. Lack of a consistent definition of the OSAHS phenotype and incomplete understanding of the environmental influences on its expression hinder progress in determination of the OSAHS genotype. In order to elucidate its genetic basis, the OSAHS phenotype can be separated into intermediate phenotypes, based on craniofacial morphology, obesity, susceptibility to sleepiness, ventilatory parameters and upper airway control. Identification of the genetic systems that influence more than one of the intermediate phenotypes may facilitate better understanding of mechanisms underlying OSAHS and lead to formulation of pharmacological interventions. 
 
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