脂联素基因的靶向测序分析确定了与中国汉族人群阻塞性睡眠呼吸暂停相关的变异。
Targeted sequencing analysis of the adiponectin gene identifies variants associated with obstructive sleep apnoea in Chinese Han population.
作者信息
Yang Yunyun, Yang Song, Jiao Xiaolu, Li Juan, Wu Hao, Sun Haili, Yang Yunxiao, Zhang Ming, Wei Yongxiang, Qin Yanwen
机构信息
Key Laboratory of Upper Airway Dysfunction-related Cardiovascular Diseases.
Key Laboratory of Remodeling-related Cardiovascular Diseases, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases.
出版信息
Medicine (Baltimore). 2019 Apr;98(16):e15219. doi: 10.1097/MD.0000000000015219.
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.
阻塞性睡眠呼吸暂停（OSA）是一种常见的睡眠障碍，被认为是心血管疾病的独立危险因素。它具有很强的遗传背景，与低脂联素血症有关。对340名参与者进行了全ADIPONQ基因的靶向测序，其中包括247名OSA患者和93名非OSA参与者。采用多导睡眠图诊断OSA。通过多变量回归分析确定变异与OSA之间的关联。在所有受试者中鉴定出13个ADIPOQ单核苷酸多态性。OSA组和非OSA组在rs4686803（P = 0.034）、rs3774262（P = 0.034）和rs2082940（P = 0.045）的基因型频率存在显著差异。在调整混杂效应后，rs4686803的CT/TT基因型、rs3774262的GA/AA基因型和rs1063537的CT/TT基因型个体在显性模型中患OSA的风险分别增加2.295倍、2.295倍和2.155倍。rs2082940 CC基因型的受试者在隐性模型中患OSA的风险降低（OR：0.455）。此外，rs3774262（GA/AA）（P = 0.001）、rs4686803（CT/TT）（P = 0.001）和rs1063537（CT/TT）（P = 0.004）基因型个体的呼吸暂停低通气指数（AHI）分别显著高于rs3774262（GG）、rs4686803（CC）和rs1063537（CC）基因型个体。ADIPOQ rs2082940 CC基因型个体的AHI显著低于CT和TT基因型个体（P = 0.007）。此外，分层分析发现，rs3774262（GA/AA）、rs4686803（CT/TT）和rs1063537（CT/TT）变异的基因型在超重参与者中患OSA的风险分别增加2.935倍、2.935倍和2.786倍。与rs2082940 CT/TT基因型相比，rs2082940 CC变异的基因型在超重参与者中患OSA的风险降低（OR：0.373）。ADIPOQ变异rs3774262、rs4686803、rs1063537和rs2082940与中国汉族个体中OSA的患病率有关。
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