【摘要】：目的探討葡萄糖轉(zhuǎn)運蛋白4(GLUT4)基因多態(tài)性與阻塞性睡眠呼吸暫停引起的夜間低氧及相關(guān)炎癥因子的關(guān)系。方法選擇2010年1至12月在新疆維吾爾自治區(qū)人民醫(yī)院高血壓科就診的患者,經(jīng)病史詢問和體格檢查,對可能存在阻塞性睡眠呼吸暫停綜合征(OSAS)的859例患者進行夜間多導睡眠監(jiān)測和血清炎癥因子測定,最終將616例(72%)OSAS伴有中重度低氧血癥的患者作為病例組,243例(28%)未診斷為OSAS及低氧血癥的患者作為對照組。選取96例病例組患者進行GLUT4基因功能區(qū)測序,篩查代表性變異。應(yīng)用TaqMan PCR方法進行基因分型后分析其與低氧的關(guān)系。結(jié)果 GLUT4基因測序發(fā)現(xiàn)4個變異位點,關(guān)聯(lián)分析確定3個代表性單核苷酸多態(tài)性位點rs5417,rs5415和rs5435在該人群中的分布符合Hardy-Weinberg平衡。在年齡≥50歲和超重肥胖的人群中,rs5417位點基因型在病例組和對照組的分布差異有統(tǒng)計學意義(P均0.05),AA+AC基因型攜帶者的低氧者比例低于CC基因型攜帶者(69.1%比74.7%)。rs5417位點的AA基因型為OSAS患者低氧的獨立保護因素(OR=0.385,95%CI=0.210~0.704,P=0.002),男性(OR=1.635,95%CI=1.037~2.577,P=0.034)和總膽固醇(OR=1.600,95%CI=1.287~1.987,P0.001)是OSAS患者低氧的獨立危險因素,正常體重(OR=0.059,95%CI=0.037~0.094,P0.001)和高密度脂蛋白膽固醇(OR=0.337,95%CI=0.171~0.666,P=0.002)為OSAS低氧的獨立保護因素。rs5417位點AA+AC基因型攜帶者的單核細胞趨化蛋白-1和C反應(yīng)蛋白水平低于CC基因型攜帶者(P均0.05)。結(jié)論睡眠呼吸暫停引起的夜間低氧與GLUT4基因單核苷酸多態(tài)性位點rs5417有關(guān)。
[Abstract]:Objective to investigate the relationship between glucose transporter 4 (GLUT4) gene polymorphism and nocturnal hypoxia and related inflammatory factors induced by obstructive sleep apnea (OSAS). Methods from January to December 2010, the patients in the Department of Hypertension, Xinjiang Uygur Autonomous region people's Hospital, were selected for medical history inquiry and physical examination. A total of 859 patients with possible obstructive sleep apnea syndrome (OSAS) were monitored by nocturnal polysomnography and serum inflammatory cytokines. 616 (72%) OSAS patients with moderate or severe hypoxemia were selected as the case group. 243 (28%) patients without OSAS and hypoxemia as control group. The GLUT4 gene functional regions were sequenced in 96 cases. The relationship between TaqMan PCR genotyping and hypoxia was analyzed. Results four mutation sites were found by GLUT4 gene sequencing. The distribution of rs5417,rs5415 and rs5435 in this population was confirmed by association analysis. The distribution of rs5417,rs5415 and rs5435 in the population was in accordance with the Hardy-Weinberg equilibrium. In the age 鈮，

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