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0019 Extreme Trait Next Generation Sequencing Identifies AHDC1 as a Novel Candidate Gene in Obstructive Sleep Apnea

Sleep (New York, N.Y.), 2018-04, Vol.41 (suppl_1), p.A8-A9 [Peer Reviewed Journal]

Sleep Research Society 2018. Published by Oxford University Press [on behalf of the Sleep Research Society]. All rights reserved. For permissions, please email: journals.permissions@oup.com 2018 ;Copyright © 2018 Sleep Research Society ;ISSN: 0161-8105 ;EISSN: 1550-9109 ;DOI: 10.1093/sleep/zsy061.018

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  • Title:
    0019 Extreme Trait Next Generation Sequencing Identifies AHDC1 as a Novel Candidate Gene in Obstructive Sleep Apnea
  • Author: Qin, Y ; Yang, S ; Li, K ; Wei, Y
  • Subjects: Airway management ; Genes ; Sleep apnea
  • Is Part Of: Sleep (New York, N.Y.), 2018-04, Vol.41 (suppl_1), p.A8-A9
  • Description: Abstract Introduction Obstructive sleep apnea (OSA) (OMIM: 107650) is a common disorder characterized by recurrent episodes of partial or complete upper airway obstruction that lead to sleep fragmentation, daytime sleepiness, and repeated episodes of chronic intermittent hypoxia. OSA may be a clinical symptom of Mendelian diseases, such as auriculocondylar syndrome, Costello syndrome, Xia-Gibbs syndrome, and Marfan syndrome, suggesting a genetic basis for this disease. Genetic susceptibility to OSA remains incompletely characterized. This study was performed to identify rare variation by whole-exome sequencing and targeted sequencing in unrelated Chinese Han patients with OSA. Methods We identified 30 severe patients with obstructive sleep apnea and 21 samples from controls in a case-control study included 165 patients with obstructive sleep apnea and 62 control individuals. We filtered whole-genome sequencing results to include only rare variants. Targeted sequencing of 8 candidate genes (PPARG, LEPR, SLC6A4, PHOX2B, TNF, AHDC1, HIF1A, and ADIPOQ) was conducted in 68 samples from patients with moderate to severe obstructive sleep apnea and 58 samples from controls to in another cohort to validate novel rare variants. Deleterious effects of each variant were assessed by various algorithms. Luciferase reporter assay was used to validate the effect of variation on genes. Results We detected one probably deleterious missense mutation (AHDC1:p.G1484D) and one rare variant (c.-781C>G) in the 5′-UTR of AHDC1 in two patients who had a higher apnea-hypopnea index and lower oxygen saturation. All variants identified by sequencing were confirmed by Sanger sequencing. Luciferase reporter assay results show that the variant (c.-781C>G) in the 5′-UTR of AHDC1 affect the expression of gene. Conclusion AHDC1 is a novel candidate gene in patients with severe obstructive sleep apnea, and the variant (c.-781C>G) in the 5′-UTR of AHDC1 is a previously unreported rare variant contributing to obstructive sleep apnea susceptibility. Support (If Any) This study was supported by the National Natural Science Foundation of China (Grant No. 81670331, 81470567); International Science & Technology Cooperation Program of China No. 2015DFA30160; Beijing Medical Project (2016-4); Beijing Municipal Science & Technology Commission No. Z141100006014057.
  • Publisher: US: Oxford University Press
  • Language: English
  • Identifier: ISSN: 0161-8105
    EISSN: 1550-9109
    DOI: 10.1093/sleep/zsy061.018
  • Source: ProQuest One Psychology
    ProQuest Databases
    Alma/SFX Local Collection
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