血管紧张素转换酶基因多态性与阻塞性睡眠呼吸暂停综合征  

Angiotension I converting enzyme gene polymorphism in Chinese patients with obstructive sleep apnea syndrome

作　　者：肖毅[1,2] 黄席珍[1,2] 邱长春[1,2] 朱席琳[1,2] 刘怡文[1,2] 

机构地区：[1]中国医学科学院中国协和医科大学北京协和医院呼吸内科 [2]中国医学科学院基础医学研究所医学分子生物学国家重点实验室

出　　处：《中华结核和呼吸杂志》1998年第8期489-491,共3页Chinese Journal of Tuberculosis and Respiratory Diseases

摘　　要：目的探讨血管紧张素转换酶（ＡＣＥ）基因多态性与阻塞性睡眠呼吸暂停综合征（ＯＳＡＳ）之间的关系。方法以ＡＣＥ基因内含子１６的一个２８７ｂｐ的Ａｌｕ顺序Ｉ／Ｄ（ｉｎｓｅｒｔｉｏｎ／ｄｅｌｅｔｉｏｎ）型为多态标志，用聚合酶链反应（ＰＣＲ）扩增基因片段，对５０例ＯＳＡＳ患者和５０名正常人ＡＣＥ基因多态性的分布进行了观察，并结合临床特点和多导睡眠监测结果进行了分析。结果发现在中国汉族正常人群中，ＡＣＥ基因Ｉ／Ｄ多态Ｉ、ＩＤ、ＤＤ基因型频率分别为１６％，５２％，３２％，其Ｄ和Ｉ等位基因频率分别为４２％和５８％。Ｉ／Ｄ多态分布符合Ｈａｒｄｙｗｅｉｎｂｅｒｇ定律，达到了遗传平衡，具有群体代表性。ＯＳＡＳ患者Ⅱ基因型显著高于正常人，ＤＤ基因型则明显低于正常人；Ｄ和Ｉ等位基因频率分别为２８％和７２％，其差异也具有统计学意义。Ⅱ基因型的ＯＳＡＳ患者较ＩＤ基因型，最长呼吸暂停时间，最低血氧饱和度和睡眠呼吸暂停低通气指数（ＡＨＩ）均较严重。另外，合并高血压的ＯＳＡＳ患者其最长呼吸暂停时间，最低血氧饱和度和ＡＨＩ较无高血压的ＯＳＡＳ患者严重。结论中国汉族人ＯＳＡＳ发病与ＡＣＥ基因Ｉ／Ｄ多态性相关联，基因型ＩＩ和等位基因Ｉ可能是中国人?Objective To investigate the relationship of an insertion/deletion (I/D) polymorphism of the angiotensionconverting enzyme (ACE) gene to obstructive sleep apnea syndrome (OSAS). Method Genomic DNA was extracted from blood samples and amplified by polymerase chain reaction (PCR). PCR primers were flanking the polymorphic region in intron 16 of the ACE gene. Result The distribution of the DD, ID, and II ACE genotypes was 16%, 52%, and 32% in the control subjects and 0%, 56%, and 44% in OSAS patients, respectively. The estimated frequencies of the insertion allele and the deletion allele were 58%, 42% in the control subjects and 72%, 28% in OSAS patients, respectively. The differences were statistically significant(P<0.05). The OSAS patients with I/I genotype had significantly longer apnea time (P<0.05), lower minimum SaO2 (P<0.05) and more severe AHI (P<0.05) than did the OSAS patients with I/D genotype. Conclusion These results indicate that the II genotype and I allele might be a risk factor for OSAS in Chinese.

关 键 词：睡眠呼吸暂停 综合征 ACE 基因多态性 

分 类 号：R563.8[医药卫生—呼吸系统]