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Genetic factors in sleep-disordered breathing.

Kiminobu Tanizawa1, Kazuo Chin2

  • 1Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawaharacho, Sakyo-ku, Kyoto 606-8507, Japan.

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|March 18, 2018
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Summary

Genetic factors significantly influence sleep-disordered breathing (SDB), including obstructive sleep apnea (OSA). Recent studies identify specific genetic risks for OSA, though more research is needed to understand the underlying mechanisms.

Keywords:
Genetic risk, congenital central hypoventilation syndromeGenome-wide association studyObstructive sleep apneaSleep-disordered breathing

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Area of Science:

  • Genetics
  • Sleep Medicine
  • Respiratory Medicine

Background:

  • Sleep-disordered breathing (SDB) affects about 20% of the Japanese population and shows familial aggregation, indicating a genetic component.
  • Obstructive sleep apnea (OSA), the most common SDB type, has high heritability, but significant genetic risk loci were only recently identified.
  • Genetic factors are implicated in other SDB forms like congenital central hypoventilation syndrome (CCHS) due to PHOX2B gene mutations.

Purpose of the Study:

  • To review the current understanding of genetic factors contributing to sleep-disordered breathing (SDB).
  • To highlight recent advances in identifying genetic risks for obstructive sleep apnea (OSA).
  • To discuss the genetic basis of other SDB conditions and the need for further research.

Main Methods:

  • Review of recent genome-wide association studies (GWAS) for OSA.
  • Analysis of genetic mutations associated with congenital central hypoventilation syndrome (CCHS).
  • Examination of SDB in genetic obesity disorders like Prader-Willi syndrome.

Main Results:

  • Genome-wide association studies have identified genetic risks for OSA linked to inflammation, hypoxia, and sleep pathways.
  • PHOX2B gene mutations are confirmed causes of CCHS, with genotype correlating to hypoventilation severity.
  • SDB is frequently observed in genetic obesity syndromes.

Conclusions:

  • Genetic factors play a substantial role in SDB and OSA.
  • Recent genetic discoveries provide new insights into OSA pathogenesis.
  • Further research is crucial to unravel the molecular mechanisms connecting genetic risks to SDB clinical manifestations.