0022 Association of AHDC1 and PPARG Gene Polymorphism with Obstructive Sleep Apnea in Chinese Han

Obstructive sleep apnea (OSA) is a common disorder characterized by recurrent episodes of partial or complete upper airway obstruction.OSA is influenced by multiple factors. Having a first-degree relative with OSA increases the risk of OSA by more than 1.5-fold.Genetic susceptibility to OSA remains incompletely characterized.Several genome-wide linkage and association studies have identified at least 50 genes/loci linked to obstructive sleep apnea susceptibility. This study was performed to identify novel genetic variants in unrelated Chinese Han patients with obstructive sleep apnea. This case-control study included 165 patients with obstructive sleep apnea and 62 control individuals. Polysomnography was used to diagnose obstructive sleep apnea and determine its severity. 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 identify novel associated variants. The associations between variants and obstructive sleep apnea traits were determined by multivariate regression analysis. After adjusting for age, sex, and body mass index, we identified three variants associated with obstructive sleep apnea compared with wild-type carriers: rs13073869, rs13306747, and rs373096508. Additionally, phenotype analysis showed that rs13073869 in PPARG was positively associated with the apnea-hypopnea index. All variants identified by targeted sequencing were confirmed by Sanger sequencing. AHDC1 is a novel candidate gene in Chinese Han patients with obstructive sleep apnea, and rs13073869 in PPARG is a previously unreported polymorphism contributing to apnea-hypopnea index. Project 81670331 supported by the National Natural Science Foundation of China (NSFC); Project 81470567 supported by the NSFC; Project 91439127 supported by the NSFC; International Science & Technology Cooperation Program of China No. 2015DFA30160; Beijing Medical Project (2016-4); Beijing Municipal Science & Technology Commission No. Z141100006014057.