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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Ｈａｒｄｙｗｅｉｎｂｅｒｇ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 between angiotensin converting enzyme (ACE) gene polymorphism and obstructive sleep apnea syndrome (OSAS). Methods A 287 bp Alu I / D insertion / deletion polymorphism of ACE gene intron 16 was used as polymorphic marker. The gene fragment was amplified by polymerase chain reaction (PCR). Fifty OSAS patients and 50 normal The distribution of human ACE gene polymorphism was observed, and combined with clinical features and polysomnography monitoring results were analyzed. The results showed that the genotypes of I, ID and DD of ACE gene were 16%, 52% and 32% respectively in Chinese normal Han population, and the frequencies of D and I allele were 42% and 58% . The I / D polymorphism distribution conforms to the Hardy-Weinberg law and achieves the genetic balance with group representativeness. The genotype Ⅱ of OSAS patients was significantly higher than that of normal controls, while the DD genotype was significantly lower than that of normal controls. The frequencies of D and I alleles were 28% and 72%, respectively. The differences were also statistically significant. The genotype Ⅱ OSAS patients were more severe than the ID genotypes, the longest apnea time, the lowest oxygen saturation and sleep apnea-hypopnea index (AHI). In addition, OSAS patients with hypertension had the greatest duration of apnea, lowest oxygen saturation and AHI worse than those without OSAS. Conclusions The incidence of OSAS in Chinese Han population is associated with ACE gene I / D polymorphism. Genotype II and allele I may be Chinese.