SARCOIDOSIS GENETIC EPIDEMIOL: AFRICAN AMERICANS: GRANULOMAT & INFLAMMAT DISEASE

结节病遗传流行病：非洲裔美国人：肉芽肿病

• 批准号: 6491961
• 负责人: MICHAEL C IANNUZZI
• 金额: $ 29.46万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-09-01 至 2002-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6491961
• 关键词: biomedical resource; child (0-11); epidemiology; female; human subject; male; respiratory system; sleep

Obstructive sleep apnea (OSA) is characterized by a high number of episodes of cessation of breathing during sleep, and is associated with oxygen desaturation, sleep fragmentation, and the symptoms of disruptive snoring and daytime sleepiness. It is estimated that 7 to 18 million people in the U.S. suffer from a mild form of OSA and that 1.8 to 4 million are afflicted with a more severe form. OSA has serious cardiovascular and neuro-psychological sequelae. The estimated cost of diagnosis and treatment ranges from $3 million, for the most severely affected to $40 billion including those with milder forms of OSA. In an initial sample of 91 families, odds of OSA is 1.3 times greater in subjects with one affected family member, and 2.3 times greater in subjects with three affected family members, than in controls, independent of age, sex, race, and obesity. This is suggestive of an inherited basis for OSA. Segregation analyses have indicated that the apopnea hypopnea index is distributed in families as a mixture of two distributions but does not segregate as a single Mendelian locus. Other ways of measuring clinical outcome are being investigated with a view to defining a simple mode of inheritance, if possible. Given the complex nature of OSA and the number of potentially informative covariates such as anatomic features (obesity and cranio-facial configuration) and pulmonary function, segregation analyses will be conducted with these covariates.

阻塞性睡眠呼吸暂停（OSA）的特征是大量 睡眠期间停止呼吸的发作，与之相关 氧气去饱和，睡眠破碎和症状 破坏性打s和白天的嗜睡。 据估计7 美国有1800万人患有一种轻度的OSA形式， 1.8至400万折磨更严重的形式。 OSA有 严重的心血管和神经心理后遗症。 这 估计的诊断和治疗费用范围为300万美元 最严重的影响到400亿美元，包括温和的人 OSA的形式。 在最初的91个家庭样本中，OSA的几率为1.3 一个受影响家庭成员的受试者和2.3的受试者的时代更大 有三名受影响家庭成员的受试者比在 控制，独立于年龄，性别，种族和肥胖。 这是 暗示了OSA的继承基础。 隔离分析具有 表明呼吸暂停指数分布在家庭中 作为两个分布的混合物，但不会隔离为一个 孟德尔基因座。 其他测量临床结果的方法正在 调查以定义简单的继承方式 可能的。 鉴于OSA的复杂性和 潜在信息丰富的协变量，例如解剖特征（肥胖症） 和颅面配置）和肺功能，隔离 分析将与这些协变量进行。