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Studies in the genetics of sleep apnea-surveillance on familial aggregation of the disorder and its causes

睡眠呼吸暂停的遗传学研究——对该疾病的家族聚集性及其原因的监测

基本信息

批准号：
08671088
负责人：
INOUE Yuichi
金额：
$ 1.41万
依托单位：
Tottori University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
1996
资助国家：
日本
起止时间：
1996 至 1997
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-08671088/
关键词：
sleep apnea family obesity cephalogram MRI of upper airway 睡眠時無呼吸家系内発生遺伝

项目摘要

1. We reported a family in which 6 of 29 members were affected with sleep apena syn-drome (SAS). The two affected members with severe obesity had suffered from excessive daytime sleepiness, while the other four affected members without obesity showed no clinical symptoms. The respiratory chemoreceptor function of the affected members were normal regardless of the severity of SAS.On the findings of upper airway MRI,all the affected members showed the velopharyngeal obstruction during sleep apneic episodes.2.1) We performed an epidemiological surerillance of SAS among the first degree relatives (n=889) of the index SAS patients (n=141). The prevalence rate of the disorder was four times greater in the first degree relatives compared with the control subjects.2) The onset age of the disorder were youger in the familial aggregated SAS cases compared with the solitary occurred cases. This phenomenon was thought to be related with the genetical acceleration of the occurrence of the disorder. However, clinical symptoms were less frequent in the affected first degree relatives compared with the index cases.3) In the affected first degree relatives, body mass index was significantly smaller than the index cases and solitary occurred cases.4) On the findings of cephalogram, the index cases and the affected fiest degree relatives showed the similar mild carniofacial abnormalites. In addtion, upper airway MRI findings during apneic epsodes showed that obstructed area concentrated to velopharynx both in the index cases and the affected first degree relatives.3. Judged from the above results, we speculated that similarities of craniofacial abnormality leading to the velopharyngeal obstruction was the dominant cause of the familial aggregated occurrence of SAS and that obesity might contribute to the aggravating process.

1.本文报告一个29人中有6人患睡眠呼吸暂停综合征（SAS）的家系。两名患有严重肥胖症的受影响成员患有白天过度嗜睡，而其他四名没有肥胖症的受影响成员没有表现出临床症状。2.1）对141例SAS患者的一级亲属（n=889）进行SAS流行病学调查。一级亲属患病率是对照组的4倍。2）家族聚集性SAS患者的发病年龄较单独发生的SAS患者的发病年龄小。这种现象被认为与遗传加速疾病的发生有关。3）一级亲属的体重指数（BMI）明显小于指示病例和孤立病例; 4）头颅X线片显示指示病例和一级亲属有相似的轻度颌面部异常。此外，在呼吸暂停发作期间的上气道MRI表现显示，无论是在索引病例还是受累的一级亲属中，阻塞区域都集中在咽部.根据上述结果，我们推测，颅面异常的相似性导致的咽梗阻是SAS家族聚集性发病的主要原因，肥胖可能是加重的原因。