Obstructive sleep apnea syndrome: From phenotype to genetic basis

M. Casale, M. Pappacena, V. Rinaldi, F. Bressi, P. Baptista, F. Salvinelli

Research output: Contribution to journalArticlepeer-review


Obstructive sleep apnea syndrome (OSAS) is a complex chronic clinical syndrome, characterized by snoring, periodic apnea, hypoxemia during sleep, and daytime hypersomnolence. It affects 4-5% of the general population. Racial studies and chromosomal mapping, familial studies and twin studies have provided evidence for the possible link between the OSAS and genetic factors and also most of the risk factors involved in the pathogenesis of OSAS are largely genetically determined. A percentage of 35-40% of its variance can be attributed to genetic factors. It is likely that genetic factors associated with craniofacial structure, body fat distribution and neural control of the upper airway muscles interact to produce the OSAS phenotype. Although the role of specific genes that influence the development of OSAS has not yet been identified, current researches, especially in animal model, suggest that several genetic systems may be important. In this chapter, we will first define the OSAS phenotype, the pathogenesis and the risk factors involved in the OSAS that may be inherited, then, we will review the current progress in the genetics of OSAS and suggest a few future perspectives in the development of therapeutic agents for this complex disease entity.

Original languageEnglish
Pages (from-to)119-126
Number of pages8
JournalCurrent Genomics
Issue number2
Publication statusPublished - 2009


  • AHI
  • Genetic
  • Hypopnea
  • Multifactorial disease
  • Obstructive sleep apnea
  • Phenotype
  • Risk factors
  • Snoring

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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