睡眠呼吸暂停综合征与载脂蛋白E基因多肽性  

Association of obstructive sleep apnea-hypopnea syndrome with gene polymorphism of apolipoprotein E

作　　者：郑辉[1] 常志文[1] 

机构地区：[1]首都医科大学附属北京同仁医院干部医疗科,北京100730

出　　处：《临床荟萃》2007年第24期1752-1756,共5页Clinical Focus

摘　　要：目的通过对阻塞性睡眠呼吸暂停低通气综合征(obstructive sleep apnea-hypopnea syndrome ,OSAHS)患者载脂蛋白E(apolipoprotein E,apoE)基因型检测及分析,探讨OSAHS与载脂蛋白E基因多肽性的相关性。方法我院干部医疗科及耳鼻喉科病房住院OSAHS患者50例,正常对照者40例;采用等位基因特异性多重PCR技术检测受试者apoE基因型,同时测定其甘油三酯(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇( HDL-C)、低密度脂蛋白胆固醇(LDL-C)、载脂蛋白A(apoA)、载脂蛋白B (apoB)、载脂蛋白E(apoE)的浓度,并计算TC/ HDL-C比值。结果 OSAHS组的E3/4基因型及ε4等位基因频率、TG、TC、TC/ HDL-C、apoB、apoE明显高于对照组(P值分别为0 .011、0 .024、0 .000、0 .020、0 .005、0 .014、0 .008) ;apoEε4阳性组AHI≥5次/h的百分比、AHI水平及TG、TC、LDL浓度明显高于apoEε4阴性组(P值分别为0 .000、0 .000、0 .011、0 .019、0 .042)。结论 apoEε4与OSAHS间存在一定相关性,是OSAHS的遗传易患因子之一;apoEε4携带者的早期诊断,并进行相应的预防及干预,对OSAHS的治疗及评估预后可能有重要的临床应用价值。Objective To study the association of obstructive sleep apnea-hypopnea syndrome （OSAHS） with gene polymorphism of apolipoprotein E（apo E）. Methods The apoE genotypes of 50 patients with OSAHS and 40 normal Chinese were detected by multiplex amplification refractory mutation system PCR. They also received blood tests of blood lipid level including triglyceride（TG）, total cholesterol（TC）, high-density lipoprotein cholesterol（HDL- C）, low-density lipoprotein cholesterol（LDL-C）, apolipoprotein A（apoA）, apolipoprotein B（apoB） and apoE. Results The frequencies of E3/4 and ε4 allele and the levels of TG, TC, TC/HDL-C apoB and apoE in OSAHS group were significantly higher than those in control group （ P = 0.011,0. 024,0. 000,0. 020,0. 005,0.014,0. 008）. The prevalence of elevated AHI （≥5/h） and mean AHI were significantly increased in ε4 positive group with the high level of TG, TC and LDL-C（ P =0, 000,0. 000,0. 011,0. 019,0. 042）. Conclusion apoEε4 is associated with OSAHS. It might be one of the multiple genetic factors involved the susceptibility to this syndrome.

关 键 词：睡眠呼吸暂停 阻塞性 肺通气 载脂蛋白E类 基因表达 

分 类 号：R563.8[医药卫生—呼吸系统]