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）的特征是大量的 睡眠时呼吸停止， 氧气饱和度下降，睡眠碎片，以及 打鼾和白天嗜睡。 据估计，7至 美国有1800万人患有轻度OSA， 1.8到400万人患有更严重的形式。 OSA有 严重的心血管和神经心理后遗症。 的 诊断和治疗的估计费用从300万美元， 受影响最严重的是400亿美元，包括那些受影响较轻的国家。 阻塞性睡眠呼吸暂停综合症的形式。 在91个家庭的初始样本中，OSA的几率为1.3 在有一个受影响家庭成员的受试者中， 有三个受影响家庭成员的受试者， 对照组，与年龄、性别、种族和肥胖无关。 这是 提示阻塞性睡眠呼吸暂停综合征有遗传基础 隔离分析 表明呼吸暂停低通气指数具有家族性分布 作为两种分布的混合物，但不作为单一分布分离 孟德尔基因。 测量临床结果的其他方法正在 为了定义一种简单的继承模式，如果 可能 鉴于OSA的复杂性和 潜在的信息协变量，如解剖特征（肥胖 和颅面结构）和肺功能，分离 将对这些协变量进行分析。