Genetic aspects of OSA in adults and children

R. L. Riha*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Obstructive sleep apnoea (OSA) is known to be hereditary but a number of environmental and developmental factors can affect its expression, e. g. obesity, hormonal changes, nasal occlusion and lymphoid tissue growth.

For this reason, OSA is generally considered to be a sum of its component parts with relative contributions in each individual from craniofacial morphology, susceptibility to sleepiness, ventilatory control, obesity, upper airway control and lymphoid tissue overgrowth.

The phenotypic complexity of OSA makes establishment of a single genetic basis elusive. Furthermore, unlike other polygenic disease models, such as chronic obstructive pulmonary disease, asthma and hypertension, funding for studies in OSA has been limited. A number of genetic approaches have been utilised, including genome-wide studies, case-control studies and genome-wide association studies. The results of these demonstrate our first tentative, but hopeful, steps of uncovering some of the markers of disease expression, as well as disease progression.

Future efforts aimed at exploring the sequelae of OSA and possible genetic modulators of these are more likely to yield clinically useful data, which will ultimately result in improved patient care.

Original languageEnglish
Title of host publicationSLEEP APNOEA
EditorsWT McNicholas, MR Bonsignore
Place of PublicationSHEFFIELD
PublisherEuropean Respiratory Society
Pages69-85
Number of pages17
DOIs
Publication statusPublished - 2010

Publication series

NameEuropean Respiratory Monograph
PublisherEUROPEAN RESPIRATORY SOCIETY
ISSN (Print)2075-6674

Keywords

  • Case-control studies
  • genetics
  • genomics
  • obstructive sleep apnoea
  • OBSTRUCTIVE SLEEP-APNEA
  • ANGIOTENSIN-CONVERTING ENZYME
  • POSITIVE AIRWAY PRESSURE
  • EXCESSIVE DAYTIME SLEEPINESS
  • APOLIPOPROTEIN-E EPSILON-4
  • WHOLE-GENOME SCAN
  • BODY-MASS INDEX
  • HYPOPNEA SYNDROME
  • RECEPTOR GENE
  • APOE EPSILON-4

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