COGNITION, FUNCTION AND GENOTYPE IN ALZHEIMERS DISEASE

阿尔茨海默病（AD）是一种成年发病的神经退行性疾病， 影响了400多万美国人及其家庭。 AD是 其特点是疾病进展速度的不确定性， 作为其认知和功能表现，阻碍了能力， 护士预测资源使用和指定干预措施。 不确定性也可能导致专业和家庭照顾者 应力 最近的研究表明， 载脂蛋白E（APOE）基因型和AD以及潜在的APOE 通过α 1-抗胰凝乳蛋白酶（ACT）基因的修饰作用， 在AD诊断和预后中具有潜在实用性的生物标志物。 需要进一步的研究来了解APOE与 基因状态和潜在修饰基因，发病年龄，疾病 进展，以及认知和功能障碍的模式， 减少AD患者不确定性的方法， 家庭和专业护理人员。 本研究提出， 收集家族史、APOE基因型和ACT基因型数据， 与两个现有的护理研究数据库链接，其中包括 认知、非认知和功能状态的重复测量， AD患者：家庭参与护理（FIC）数据集和 逐步降低的压力阈值（PLST）数据集。的目的 本研究的目的是：1）描述APOE和ACT等位基因的分布 与已知的等位基因频率进行比较 在一般人群中，2）分析APOE与 ACT基因型和发病年龄、认知和功能障碍发生率 下降，以及认知、非认知和功能 AD的表现。

Alzheimer's disease (AD), an adult-onset, neurodegenerative disorder, affects more than 4 million Americans and their families. AD is characterized by uncertainty in the rate of disease progression as well as its cognitive and functional manifestations, hindering the ability of nurses to predict resource use and specify interventions. Uncertainty may also contribute to professional and family caregiver stress. Recent research demonstrates an association between apolipoprotein E (APOE) genotype and AD as well as a potential APOE modifying effect by the alpha1-antichymotrypsin (ACT) gene, providing biological markers with potential utility in AD diagnosis and prognosis. Further research is needed to understand the association between APOE gene status and potential modifier genes, age of onset, disease progression, and patterns of cognitive and functional impairment, as a means of reducing uncertainty for the individuals with AD, their families, and professional caregivers. This study proposes the collection of family history, APOE genotype, and ACT genotype data to be linked with two existing nursing research databases containing repeated measures of cognitive, non-cognitive, and functional status for subjects with AD: the Family Involvement in Care (FIC) dataset and the Progressively Lowered Stress Threshold (PLST) dataset. The purposes of this study are to: 1) describe the distribution of APOE and ACT allele frequencies among people with AD and compare to known allele frequencies in the general population, and 2) analyze the relationship between APOE and ACT genotypes and age of onset, rate of cognitive and functional decline, and profiles of cognitive, non-cognitive, and functional manifestations in AD.