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

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 inconclusi...

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Autores principales: Li, Juan, Yang, Song, Jiao, Xiaolu, Yang, Yunyun, Sun, Haili, Zhang, Ming, Yang, Yunxiao, Qin, Yanwen, Wei, Yongxiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778532/
https://www.ncbi.nlm.nih.gov/pubmed/31372721
http://dx.doi.org/10.1007/s00408-019-00254-z
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author Li, Juan
Yang, Song
Jiao, Xiaolu
Yang, Yunyun
Sun, Haili
Zhang, Ming
Yang, Yunxiao
Qin, Yanwen
Wei, Yongxiang
author_facet Li, Juan
Yang, Song
Jiao, Xiaolu
Yang, Yunyun
Sun, Haili
Zhang, Ming
Yang, Yunxiao
Qin, Yanwen
Wei, Yongxiang
author_sort Li, Juan
collection PubMed
description 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00408-019-00254-z) contains supplementary material, which is available to authorized users.
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spelling pubmed-67785322019-10-17 Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population Li, Juan Yang, Song Jiao, Xiaolu Yang, Yunyun Sun, Haili Zhang, Ming Yang, Yunxiao Qin, Yanwen Wei, Yongxiang Lung Sleep 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00408-019-00254-z) contains supplementary material, which is available to authorized users. Springer US 2019-08-01 2019 /pmc/articles/PMC6778532/ /pubmed/31372721 http://dx.doi.org/10.1007/s00408-019-00254-z Text en © The Author(s) 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Sleep
Li, Juan
Yang, Song
Jiao, Xiaolu
Yang, Yunyun
Sun, Haili
Zhang, Ming
Yang, Yunxiao
Qin, Yanwen
Wei, Yongxiang
Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population
title Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population
title_full Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population
title_fullStr Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population
title_full_unstemmed Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population
title_short Targeted Sequencing Analysis of the Leptin Receptor Gene Identifies Variants Associated with Obstructive Sleep Apnoea in Chinese Han Population
title_sort targeted sequencing analysis of the leptin receptor gene identifies variants associated with obstructive sleep apnoea in chinese han population
topic Sleep
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778532/
https://www.ncbi.nlm.nih.gov/pubmed/31372721
http://dx.doi.org/10.1007/s00408-019-00254-z
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