Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8750699 | Respiratory Investigation | 2018 | 9 Pages |
Abstract
Sleep-disordered breathing (SDB) is characterized by repetitive episodes of decreased or arrested respiratory airflow during sleep. SDB is common and affects approximately 20% of the Japanese general population. Most traits of normal sleep and SDB show familial aggregation, suggesting significant effects of genetic factors. Obstructive sleep apnea (OSA) is the most common type of SDB and has a high heritability. Regardless of high heritability, no risk locus for OSA has reached a genome-wide level of significance (P < 5Ã10â8) in linkage or candidate gene analysis. However, a recent genome-wide association study identified some genetic risks for OSA with P < 5Ã10â8 for the first time. The identified genes are associated with inflammation, hypoxia signaling, and sleep pathways. The effects of genetic factors on the consequences of OSA has not been determined, although a correlation between OSA and cardiovascular disease may differ across races. Congenital central hypoventilation syndrome (CCHS) is a genetically inherited disorder caused by mutations in the paired-like homeobox 2B (PHOX2B) gene of polyalanine repeat mutations in the 20-alanine repeat or non-polyalanine repeat mutations. PHOX2B genotypes are also associated with clinical phenotypes of CCHS, including severity of hypoventilation. SDB, including obesity hypoventilation syndrome, is often seen in genetic obesity-associated disorders such as Prader-Willi syndrome. Although advances in genetics have resulted in identification of some genetic causes of SDB, further studies are required to elucidate the cellular and molecular mechanisms between genetic risks and clinical manifestations.
Keywords
ATSGDNFDβHNREMNTSNRG1OHSRTNANSDpleckstrinserotonin receptor 2ALEPRSLC6A4NHLBIROHHADCCHSPHOX2Bpaired-like homeobox 2BPPARGC1BTNFRAI1SDBCFSPWSobstructive sleep apneaCentral sleep apneaApoeapolipoprotein Esleep-disordered breathingAmerican Thoracic SocietyCareCSAOsanon-rapid eye movementAutonomic nervous systemFTOdopamine β-hydroxylaseANSCongenital central hypoventilation syndromeobesity hypoventilation syndromePrader-Willi syndromebody mass indexBMIconfidence intervalglial cell-line derived neurotrophic factortumor necrosis factorNational Heart, Lung, and Blood InstituteGenome-wide association studyGWASodds rationeuregulin 1nucleus tractus solitariusRetrotrapezoid nucleusGrowth hormoneParMC-reactive proteinCRPLeptin receptor
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Authors
Kiminobu Tanizawa, Kazuo Chin,