Association between genetic variants in metabolic syndrome-related genes and risk of obstructive sleep apnea among a Chinese population

Abstract Background Despite the strong epidemiological association between Metabolic syndrome (MetS) and obstructive sleep apnea (OSA), the causal mechanism between the two remains not fully elucidated. We conducted a case-control study to evaluate the genetic association of twelve metabolic syndrome-related genes with OSA in Chinese subjects. Methods Targeted capture sequencing for twelve metabolic syndrome-related genes (EDN1, APOE, LEP, LEPR, IRS1, UCP1, ADIPOQ, PEMT, PPARG, SLC2A4, FABP2 and ADRA2A) were performed in 100 subjects including 50 patients with severe OSA and 50 non-OSA individuals. Possible associations between genetic variants and the risk of OSA were determined by logistic regression analyses. Results From the multiple genes studied, only the rs12486170 variant in PPARG gene was associated with OSA risk after adjusting for potential confounding factors. The PPARG rs12486170 AG/GG genotype was found to decrease the risk for OSA [dominant model: adjusted odds ratio (AOR) = 0.211, 95% confidence interval (CI) = 0.055-0.800, P = 0.022] compared with AA genotype. Moreover, subjects with the rs12486170 AG/GG genotype had a significantly lower apnea-hypopnea index (AHI) (median: 2.50 vs. 50.90 events/h, P = 0.019) and higher lowest oxygen saturation (LSaO2) (median: 87% vs. 75%, P = 0.040) compared with those with the AA genotype. Conclusions We identified a novel variant of PPARG in subjects with OSA, and specifically found an association between rs12486170 polymorphisms and OSA risk in a Chinese population.