SARCOIDOSIS GENETIC EPIDEMIOL: AFRICAN AMERICANS: GRANULOMAT & INFLAMMAT DISEASE

阻塞性睡眠呼吸暂停(OSA)的特点是大量的 睡眠时呼吸停止的发作，并与 伴随着氧气减饱和，睡眠碎裂，以及 打鼾声和白天嗜睡。据估计，7%至7% 美国有1800万人患有轻度阻塞性睡眠呼吸暂停综合症， 180万至400万人患有更严重的疾病。OSA已经 严重的心血管和神经心理后遗症。这个 诊断和治疗的估计费用从300万美元不等， 受影响最严重的为400亿美元，包括那些病情较轻的人 OSA的各种形式。在91个家庭的初始样本中，阻塞性睡眠呼吸暂停综合征的患病几率为1.3 在有一个受影响家庭成员的受试者中，增加2.3倍 在有三个受影响家庭成员的受试者中，比在 对照，不受年龄、性别、种族和肥胖的影响。这是 暗示了阻塞性睡眠呼吸暂停综合征的遗传基础。分离分析有 提示呼吸暂停低通气指数在家庭中的分布。 作为两个分布的混合体，但不作为单个分布分离 孟德尔轨迹。衡量临床结果的其他方法是 调查的目的是定义一个简单的继承模式，如果 有可能。鉴于OSA的复杂性质和 潜在的信息性协变量，如解剖特征(肥胖 和头面部结构)和肺功能，隔离 将使用这些协变量进行分析。

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.