Department of Internal Medicine, The Affiliated Shanghai Eighth People's Hospital of Jiangsu University, Shanghai, China.
Department of Respiratory Medicine, The Affiliated Shanghai Pulmonary Hospital of Tongji University, Shanghai, China.
PLoS One. 2014 Dec 4;9(12):e114160. doi: 10.1371/journal.pone.0114160. eCollection 2014.
Obstructive sleep apnea (OSA) is a highly heterogeneous sleep disorder, and increasing evidence suggests that genetic factors play a role in the etiology of OSA. Airway muscle dysfunction might promote pharyngeal collapsibility, mutations or single nucleotide polymorphisms (SNPs) in the delta-sarcoglycan (SCGD) gene associated with muscle dysfunction. To evaluate if SCGD gene SNPs are associated with OSA, 101 individuals without OSA and 97 OSA patients were recruited randomly. The genotype distributions of SNPs (rs157350, rs7715464, rs32076, rs13170573 and rs1835919) in case and control populations were evaluated. The GG, GC and CC genotypes of rs13170573 in control and OSA groups were 51.5% and 37.1%, 36.6% and 35.1%, and 11.9% and 27.8%, respectively. Significantly fewer OSA patients possessed the GG genotype and significantly more possessed the CC genotype compared with controls. Further multivariate logistic regression analysis showed that the CC genotype was an independent risk factor for OSA, with an odds ratio (OR) of 2.17 (95% confidence interval [CI]: 1.19-6.01). Other factors, such as age ≥ 50 years, male gender, body mass index (BMI) ≥ 25 kg/m(2), low-density lipoprotein cholesterol (LDL-C) level ≥ 3.33 mg/dL, smoking and hypertension, were also independent risk factors for OSA in our multivariate logistic regression model.
阻塞性睡眠呼吸暂停（OSA）是一种高度异质性的睡眠障碍，越来越多的证据表明遗传因素在 OSA 的发病机制中起作用。气道肌肉功能障碍可能会导致咽腔塌陷，与肌肉功能障碍相关的 delta-横纹肌聚糖（SCGD）基因突变或单核苷酸多态性（SNP）。为了评估 SCGD 基因 SNP 是否与 OSA 相关，随机招募了 101 名无 OSA 个体和 97 名 OSA 患者。评估了病例和对照组中 SNP（rs157350、rs7715464、rs32076、rs13170573 和 rs1835919）的基因型分布。在对照组和 OSA 组中，rs13170573 的 GG、GC 和 CC 基因型分别为 51.5%和 37.1%、36.6%和 35.1%、11.9%和 27.8%。与对照组相比，OSA 患者中 GG 基因型明显较少，CC 基因型明显较多。进一步的多元逻辑回归分析显示，CC 基因型是 OSA 的独立危险因素，优势比（OR）为 2.17（95%置信区间[CI]：1.19-6.01）。其他因素，如年龄≥50 岁、男性、体质指数（BMI）≥25 kg/m(2)、低密度脂蛋白胆固醇（LDL-C）水平≥3.33 mg/dL、吸烟和高血压，也是我们多元逻辑回归模型中 OSA 的独立危险因素。
