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Obstructive sleep apnoea (OSA) is a prevalent sleep disorder considered as an independent risk factor for cardiovascular consequences. It has a strong genetic background and is associated with hypoadiponectinaemia.Target sequencing of whole ADIPONQ gene was performed in 340 participants including 247 patients with OSA and 93 non-OSA participants. Polysomnography was used to diagnose OSA. The associations between variants and OSA were determined by multivariate regression analysis.Thirteen single nucleotide polymorphisms of ADIPOQ were identified in all subjects. Genotype frequencies at rs4686803 (P = .034), rs3774262 (P = .034), and rs2082940 (P = .045) were significantly different between OSA and non-OSA groups. Individuals carrying the CT/TT genotypes of rs4686803, GA/AA genotypes of rs3774262, and CT/TT genotypes of rs1063537 were associated with 2.295-, 2.295- and 2.155-fold increased risk of OSA respectively in dominant model, after adjusting for confounding effects. The subjects with the rs2082940 CC genotype were associated with decreased risk of OSA (OR: 0.455) in recessive model. Additionally, the apnoea-hypopnea index (AHI) was significantly increased in rs3774262 (GA/AA) (P = .001), rs4686803 (CT/TT) (P = .001), and rs1063537 (CT/TT) (P = .004) genotype individuals than those with rs3774262 (GG), rs4686803 (CC), and rs1063537 (CC) genotypes, respectively. The AHI was significantly decreased in individuals with ADIPOQ rs2082940 CC genotypes than in those with the CT and TT genotype (P = .007). Moreover, the stratified analysis found that the genotype of rs3774262 (GA/AA), rs4686803 (CT/TT), and rs1063537 (CT/TT) variants were associated with increased risk of OSA by 2.935-, 2.935- and 2.786-fold in overweight participants. The genotype of rs2082940 CC variants was associated with decreased risk of OSA (OR: 0.373) in overweight participants compared with rs2082940 CT/ TT genotypes.ADIPOQ variants rs3774262, rs4686803, rs1063537, and rs2082940 were associated with the prevalence of OSA in Chinese Han individuals.

Targeted sequencing analysis of the adiponectin gene identifies variants associated with obstructive sleep apnoea in Chinese Han population