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    阻塞性睡眠呼吸暂停低通气综合征醛醇脱氢酶基因多态性的临床研究

    Clinical study on the ADH2 and ALDH2 gene polymorphism in obstructive sleep apnea syndrome

    • 摘要: 目的 探讨长期大量饮酒及乙醇脱氢酶2(ADH2)、乙醛脱氢酶2(ALDH2)基因多态性和阻塞性睡眠呼吸暂停低通气综合征的关系。方法 以321例打鼾男性为研究对象,行多导睡眠呼吸监测并分析数据后分为OSAHS组208例和非OSAHS对照组113例。应用专门的问卷,调查所有研究对象的饮酒史,计算平均饮酒量及累积饮酒量,将患者分为少量、中量、大量饮酒组,分析长期大量酒精摄入与OSAHS的相关关系;采用聚合酶链式反应-连接酶检测反应(PCR-LDR)技术,检测乙醇脱氢酶ADH2 Arg47His和乙醛脱氢酶ALDH2 Glu487Lys基因型,探讨这两种基因型多态性与OSAHS的相关关系。结果 OSAHS组饮酒率为42.80%,非OSAHS组为38.41%,两组比较差异无统计学意义(P>0.05);入组对象中少量饮酒者52例,中量31例,大量89例;大量饮酒者患OSAHS的条件OR值为2.310(95%CI:1.364-1.967,P=0.013); OSAHS组大量饮酒者较中量及小量者有更低夜间血氧饱和度及更高AHI;与携带ADH2(A/A)或ALDH2(G/G)基因型者相比,其它基因型发生OSAHS的危险性未增加(P>0.05)。结论 长期大量饮酒增加OSAHS及重度OSAHS患病率,ADH2、ALDH2基因多态性与OSAHS易感性无关。

       

      Abstract: Objective To investigate the relationship among long-term alcohol drinking and dehydrogenase 2 (ADH2), aldehyde dehydrogenase 2 (ALDH2) gene polymorphism for the susceptibility of obstructive sleep apnea hypopnea syndrome(OSAHS). Methods From February 2014 to February 2017, 321 pat ients with snoring were studied, a ll patients underwent overnight sleep monitoring,and there were OSAHS group(208 cases )and non-OSAHS group( 113 cases ) according to the apnea-hypopnea index(AHI).Investigate the drinking history of all subjects, mean monthly alcohol consumption and cumulative alcohol consumption were calculated, the relationship between alcohol ingestion and OSAHS were analyzed.The polymorphisms of ADH2 Arg47His and ALDH2 Glu487Lys were detected by polymerase chain reaction-ligase detection reaction (PCR-LDR) methods, the relationship between gene polymorphism and OSAHS were analyzed .Results The alcohol consumption rate was 42.80% in OSAHS group, 38.41% in non-OSAHS group, and no statistically significant difference between the two groups (P>0.05). Patients with heavy alcohol consumption were 2.310 times mor e likely to have OSAHS than non-drinkers(95%CI:1.364-1.967,P=0.013). Heavy alcohol drinkers had a more percentage of total sleep time(TST)spent with saturation of oxyhemoglobin(Sa02)<90%and lower average SaO2. The frequency of ADH2 genotype AA/ (AG+GG) and ALDH2 genotype GG/(GA+AA) in OSAHS group had no statistical differences comparing with the control group(P>0.05) .Compared with ADH2 genotype AA and ALDH2 genotype GG, other genotypes did not increase the risk of developing the OSAHS. Conclusion Heavy alcohol consumption is associated with a significantly increased risk of OSAHS and it exacerbates nocturnal hypoxia in OSAHS patients. Genetic polymorphisms of ADH2, ALDH2 are not related to the development of OSAHS.

       

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