Rattanathanawan Kankanit, Busarakumtragul Panaree, Thongket Polphet, Neruntarat Chairat, Sukhumsirichart Wasana
J Med Assoc Thai. 2016 Nov;99 Suppl 8:S150-S157.
Obstructive sleep apnea (OSA) is a complex disorder characterized by repetitive collapse of upper airway during sleep which strongly influenced by genetic factors, especially those affect regulation of the sleep-wake cycle and endothelial function.
This study investigated the association between single nucleotide polymorphisms (SNPs) in endothelin (EDNRA), orexin (OX1R, OX2R) and vascular endothelial growth factor (VEGFR1) receptor genes with risk of OSA in Thai population.
All subjects were diagnosed by overnight polysomnography (PSG) before divided into OSA (59) and NOSA (60) groups based on their apnea-hypopnea index (AHI). Serum lipid levels were examined by using enzymatic colorimetric and homogeneous methods. DNAs were extracted and genotyped the SNPs by polymerase chain reaction (PCR) and high-resolution melting (HRM) analysis. Genotype distribution were analyzed using Chi-square test of SPSS program version 15.0.
The triglycerides level of OSA patients was significantly higher than NOSA (p-value = 0.002). The SNPs in EDNRA (rs5335), OX1R (rs2271933), OX2R (rs2292040, rs10456182) and VEGFR1 (rs11149523) genes showed no association with OSA. However, the SNP (rs17675063) in EDNRA gene showed significant differences in genotype distribution in the subjects with and without OSA (p-value = 0.002, odds ratio = 3.29 and 95% CI = 1.86-5.82).
Obstructive sleep apnea, Single nucleotide polymorphisms, Endothelin receptor type A, Orexin receptor 1, Orexin receptor 2, Vascular endothelial growth factor receptor type 1.
阻塞性睡眠呼吸暂停(OSA)是一种复杂的疾病,其特征是睡眠期间上呼吸道反复塌陷,这受到遗传因素的强烈影响,尤其是那些影响睡眠-觉醒周期调节和内皮功能的因素。
本研究调查了泰国人群中内皮素(EDNRA)、食欲素(OX1R、OX2R)和血管内皮生长因子(VEGFR1)受体基因中的单核苷酸多态性(SNP)与OSA风险之间的关联。
所有受试者在通过夜间多导睡眠图(PSG)诊断后,根据其呼吸暂停低通气指数(AHI)分为OSA组(59例)和非OSA组(60例)。采用酶比色法和匀相法检测血清脂质水平。提取DNA,并通过聚合酶链反应(PCR)和高分辨率熔解(HRM)分析对SNP进行基因分型。使用SPSS 15.0版程序的卡方检验分析基因型分布。
OSA患者的甘油三酯水平显著高于非OSA患者(p值 = 0.002)。EDNRA(rs5335)、OX1R(rs2271933)、OX2R(rs2292040、rs10456182)和VEGFR1(rs11149523)基因中的SNP与OSA无关联。然而,EDNRA基因中的SNP(rs17675063)在有和无OSA的受试者中基因型分布存在显著差异(p值 = 0.002,优势比 = 3.29,95%可信区间 = 1.86 - 5.82)。
阻塞性睡眠呼吸暂停、单核苷酸多态性、A型内皮素受体、食欲素受体1、食欲素受体2、1型血管内皮生长因子受体。