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

ABSTRACT: 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.

SUBMITTER: Jiao X

PROVIDER: S-EPMC7127989 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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

Jiao Xiaolu X Yang Song S Yang Yunyun Y Li Juan J Sun Haili H Zhang Ming M Yang Yunxiao Y Qin Yanwen Y

Sleep & breathing = Schlaf & Atmung 20190502 1

<h4>Purpose</h4>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 investigate ...[more]

PMID: 31044373

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Project description: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.

Project description:Obstructive sleep apnea (OSA) is prevalent in obese subjects. Plasma adiponectin level in obese subjects is decreased. Whether reduced adiponectin level is associated with OSA is unknown. Participants without a previous diagnosis of OSA or who have not been treated with continuous positive airway pressure were enrolled and parameters of interest were collected. Polysomnography was performed to evaluate the presence of OSA and the severity of OSA as indexed by the apnea-hypopnea index (AHI). Between-group differences were analyzed. Pearson correlation analysis was used to evaluate the association between body mass index (BMI) with plasma levels of adiponectin and C-reactive protein (CRP) and AHI; and the association between plasma adiponectin level with CRP and AHI was also evaluated. Logistic regression analysis was conducted to evaluate the association between per 1-SD standardized decrease of plasma adiponectin level and the prevalence of OSA using stepwise adjustment models. A total of 486 participants were enrolled and the mean BMI was 26.9 ± 6.2 kg/m with obesity prevalence of 28%; and the mean AHI was 12.6 ± 8.9 per sleep hour with OSA prevalence of 42%. The mean adiponectin level was 18.4 ± 10.6 μg/mL. Compared with the nonobese group, participants in the obese group had higher BMI, neck girth, waist circumference, and AHI (P < .05 for all comparisons). The prevalence of OSA (51% vs 37%) and the proportion of moderate OSA (49% vs 42%) were also significantly higher, while adiponectin level (14.6 ± 8.7 μg/mL vs 20.7 ± 10.5 μg/mL) was significantly lower. In the obese group, plasma adiponectin level was decreased gradually with the increasing severity of OSA, which was not observed in the nonobese group. BMI was negatively correlated with adiponectin while positively correlated with CRP and AHI; and adiponectin was negatively correlated with both CRP and AHI. After adjusted for covariates including BMI and waist circumference, adiponectin remained significantly associated with OSA prevalence with odds ratio of 1.20 (95% confidence interval 1.12-1.65). In summary, our preliminary study suggests that in obese subjects, plasma adiponectin level is associated with the prevalence of OSA.

Project description:BackgroundObstructive sleep apnea syndrome (OSAS) is strongly associated with the increasing prevalence of cerebrovascular events and metabolic syndrome. A growing number of studies have shown OSAS is an independent factor for insulin resistance, glucose intolerance and type2 diabetes. However, relationship of OSAS with dysglycemia is complex and still remains poorly understood. Glucose transporter 4 (GLUT4) gene is Human and rodents' main glucose transporter sensitive to insulin, and therefore confirmation of candidate gene polymorphisms and association with OSAS is needed. Aim of our study was to assess whether GLUT4 gene polymorphisms are associated with OSAS.MethodsPatients hospitalized at People's Hospital of Xinjiang were selected from January to December 2010. A total of 568 Han subjects who possibly exist OSAS base on a history and physical examination were completed the polysomnography, 412of whom (72.5%) were diagnosed with OSAS, and 156 individuals were confirmed without OSAS (27.5%). 96 severe OSAS patients chosen from OSAS were used for DNA sequencing in functional domain. Blood samples were collected from all subjects and genotyping was performed on DNA extracted from blood cells.ResultsWe performed GLUT4 genome sequencing, found 4 mutated sites. And finally selected three mutated sites such as rs5415, rs4517 and rs5435, according to principle of linkage disequilibrium (r2 > 0.8) and minimum gene allele frequency > 5%. All SNPs satisfied HEW (P > 0.05). Our study demonstrated a significant association of GLUT4 SNPrs5417 allele with OSAS, compared with controls (P < 0.05). Haplotype H1 (TCC) and H3 (CCC) defined as SNPrs5415, rs4517 and rs5435 are marginally associated with OSAS (P < 0.05). Frequencies of C haplotype of rs5417 in OSAS were higher than in controls. After adjustment for confounding factors, (AC + AA) genotype significantly reduces prevalence of OSAS, compared with CC genotype. Level of awake blood oxygen and lowest blood oxygen of (AA + AC) genotype was significantly superior to those of CC genotype.ConclusionsOur study demonstrates GLUT4 gene SNPrs5417 is associated with OSAS in hypertensive population. Carriers of AA + AC have less prevalence of obstructive sleep apnea syndrome than that of CC carriers.

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

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

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