Targeted sequencing analysis of PPARG identifies a risk variant associated with obstructive sleep apnea in Chinese Han subjects

PURPOSE: Obstructive sleep apnea (OSA) is a common disorder characterized by recurrent episodes of partial or complete upper airway obstruction. OSA susceptibility is associated with multiple genetic, environmental, and developmental factors. The PPARG rs1801282 (G/C) polymorphism has been associated with OSA in obese Indian subjects, whereas no such association has been reported in Chinese Han subjects. Potential associations between other PPARG variants and OSA have not been investigated in Chinese Han populations. The aim of this study was to identify genetic variants of PPARG in unrelated Chinese Han patients with OSA and to investigate potential associations between these variants and OSA. METHODS: We performed a cross-sectional study of 233 individuals with OSA and 93 control individuals. A portable diagnostic device was used to diagnose OSA. Targeted sequencing was conducted to identify PPARG variants. Associations between PPARG variants and OSA were analyzed using multivariate regression. RESULTS: Three PPARG single-nucleotide polymorphisms were identified and the genotype frequencies of the rs1801282 polymorphism differed significantly. Subjects with the PPARG rs1801282 CG genotype had decreased risk of having OSA compared with subjects with the CC genotype after adjusting for confounding effects. CONCLUSIONS: We identified a variant of PPARG associated with the occurrence of OSA in Chinese Han populations. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s11325-019-01855-x) contains supplementary material, which is available to authorized users.