Obstructive Sleep Apnea Syndrome: From Phenotype to Genetic Basis

  • Casale M
  • Pappacena M
  • Rinaldi V
  • et al.
86Citations
Citations of this article
117Readers
Mendeley users who have this article in their library.

Abstract

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.

References Powered by Scopus

The Pittsburgh sleep quality index: A new instrument for psychiatric practice and research

24741Citations
N/AReaders
Get full text

The Occurrence of Sleep-Disordered Breathing among Middle-Aged Adults

8898Citations
N/AReaders
Get full text

Serum immunoreactive-leptin concentrations in normal-weight and obese humans

5805Citations
N/AReaders
Get full text

Cited by Powered by Scopus

Obstructive sleep apnea in adults: Epidemiology, clinical presentation, and treatment options

0
163Citations
N/AReaders
Get full text

Obstructive sleep apnea: Awakening the hidden truth

111Citations
N/AReaders
Get full text

A review of genetic association studies of obstructive sleep apnea: Field synopsis and meta-analysis

81Citations
N/AReaders
Get full text

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Cite

CITATION STYLE

APA

Casale, M., Pappacena, M., Rinaldi, V., Bressi, F., Baptista, P., & Salvinelli, F. (2009). Obstructive Sleep Apnea Syndrome: From Phenotype to Genetic Basis. Current Genomics, 10(2), 119–126. https://doi.org/10.2174/138920209787846998

Readers' Seniority

Tooltip

PhD / Post grad / Masters / Doc 35

59%

Researcher 19

32%

Professor / Associate Prof. 3

5%

Lecturer / Post doc 2

3%

Readers' Discipline

Tooltip

Medicine and Dentistry 52

80%

Agricultural and Biological Sciences 6

9%

Biochemistry, Genetics and Molecular Bi... 4

6%

Nursing and Health Professions 3

5%

Article Metrics

Tooltip
Mentions
News Mentions: 23
Social Media
Shares, Likes & Comments: 4

Save time finding and organizing research with Mendeley

Sign up for free