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Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population.

ABSTRACT: PURPOSE:Obstructive sleep apnea (OSA) is a common sleep disorder that is influenced by various environmental and genetic factors. The potential associations of leptin and leptin receptor (LEPR) polymorphisms with OSA have been studied in different populations; however, the results remain inconclusive. The aim of this study was to examine the association between LEPR gene polymorphisms and OSA risk. METHODS:A total of 322 samples were used, including 226 OSA subjects and 96 controls. Targeted sequencing of the entire LEPR gene was performed in all subjects. Polysomnography was used to diagnose obstructive sleep apnea. The associations between variants and OSA were determined by multivariate regression analyses. RESULTS:Four single-nucleotide polymorphisms of LEPR were identified in all subjects. The genotype frequency of locus rs3790435 was significantly different between the OSA and control groups. Specifically, the variant genotype rs3790435 CC in LEPR was associated with a lower risk of OSA (OR 0.462, 95% CI 0.250-0.854, p?=?0.014) in a recessive model after controlling for potential confounders. After BMI stratification, obese patients with this variant genotype were found to have a lower risk of developing OSA. Moreover, subjects with the rs3790435 CC genotype were found to have a statistically lower apnea-hypopnea index (AHI) and higher nadir oxygen saturation than the TT/CC genotypes without differences in plasma leptin levels. CONCLUSIONS:Our study identified a novel variant of LEPR in patients with OSA, and specifically found an association between rs3790435 polymorphisms and OSA risk in Chinese Han subjects.

SUBMITTER: Li J

PROVIDER: S-EPMC6778532 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population.

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

Lung 20190801 5

<h4>Purpose</h4>Obstructive sleep apnea (OSA) is a common sleep disorder that is influenced by various environmental and genetic factors. The potential associations of leptin and leptin receptor (LEPR) polymorphisms with OSA have been studied in different populations; however, the results remain inconclusive. The aim of this study was to examine the association between LEPR gene polymorphisms and OSA risk.<h4>Methods</h4>A total of 322 samples were used, including 226 OSA subjects and 96 control ...[more]

PMID: 31372721

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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:The roles of central nervous mechanisms and cortical output in obstructive sleep apnoea remain unclear. We addressed corticomuscular coupling between cortical sensorimotor areas and lower facial motor units as a mechanistic pathway and as a possible surrogate marker of corticoperipheral motor control in obstructive sleep apnoea. In this exploratory cross-sectional retrospective study, we analysed EEG (C3 and C4 leads) and chin EMG from polysomnography recordings in 86 participants (22 females; age range: 26-81 years): 27 with mild (respiratory disturbance index = 5-15 events/h), 21 with moderate (15-30 events/h) and 23 with severe obstructive sleep apnoea (>30 events/h) and 15 control subjects (<5 events/h). By computing C3-/C4-EEG-chin EMG coherence of signal dynamics in time and frequency domains, we investigated corticomuscular coupling between cortical sensorimotor areas and lower facial motor units with increasing obstructive sleep apnoea severity during the entire sleeping time, during different sleep stages and during obstructive respiratory events, including 5 s before (stable breathing) and after events (breathing resumption). In addition, we studied a possible influence of body mass index and autonomic nervous system activation. We found that both average and respiratory event-specific corticomuscular coupling between cortical sensorimotor areas and lower facial motor units weakened significantly with increasing obstructive sleep apnoea severity, was strongest during N3 and weakened in N1, N2 and rapid eye movement stages (in decreasing order). Coupling increases significantly during the obstructive respiratory events compared with coupling just before and following them. Results were independent of body mass index or autonomic nervous system activation. We conclude that obstructive respiratory events in obstructive sleep apnoea are very strongly associated both quantitatively and temporally with the degree of disconnection within the cortical sensorimotor areas-lower facial motor units pathway. This quite coordinated activity pattern suggests a cortical sensorimotor area-driven obstructive respiratory event pattern generator and a central motor output disorder in obstructive sleep apnoea.

Dataset Information

Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population.

Publications

Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population.

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