Rosenberg R N, Richter R W, Risser R C, Taubman K, Prado-Farmer I, Ebalo E, Posey J, Kingfisher D, Dean D, Weiner M F, Svetlik D, Adams P, Honig L S, Cullum C M, Schaefer F V, Schellenberg G D
Department of Neurology, University of Texas Southwestern Medical Center at Dallas, USA.
Arch Neurol. 1996 Oct;53(10):997-1000. doi: 10.1001/archneur.1996.00550100071017.
To study the relationship between the genetic degree of Cherokee ancestry, the apolipoprotein E E4 (APOEE4) allele type, and the development of Alzheimer disease (AD) in individuals from the Cherokee Nation who reside in northeastern Oklahoma.
Alzheimer disease center satellite clinic and university departments of neurology, psychiatry, and academic computing.
Standardized dementia evaluations based on criteria from the National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer's Disease and Related Disorders Association were performed on 26 patients aged 65 years or older to establish a diagnosis of AD. Twenty-six control subjects were recruited and similarly assessed. The APOE allele type determinations were obtained on all patients and control subjects. Appropriate statistical analyses were used to compare the genetic degree of Cherokee ancestry, the APOE allele type, and the development of AD.
The data indicated that as the genetic degree of Cherokee Indian ancestry increased, the representation of AD decreased. The 9 patients with AD with a greater than 50% genetic degree of Cherokee ancestry constituted 35% of the group with AD. The 17 remaining patients with AD who were less than 50% Cherokee constituted 65% of the group with AD. In contrast, 17 (65%) of the control subjects were more than 50% Cherokee; only 9 (35%) were less than 50% Cherokee. These percentages of AD were not changed by the E4 allele. This inverse relationship between the genetic degree of Cherokee ancestry and AD, independent of the APOEE4 allele status, diminished with increasing age, suggesting an age-related protective effect of being Cherokee. For a decrease of 10% in Cherokee ancestry, the odds of developing AD are estimated to be 9.00 times greater at age 65 years but only 1.34 times greater at age 80 years.
A greater genetic degree of Cherokee ancestry reduces the risk of developing AD and, thus, seems protective. This protective genetic factor is independent of APOE allele type and diminishes with age.
研究居住在俄克拉荷马州东北部切罗基族个体中切罗基族血统的遗传程度、载脂蛋白E E4（APOEE4）等位基因类型与阿尔茨海默病（AD）发病之间的关系。
阿尔茨海默病中心卫星诊所以及大学的神经学、精神病学和学术计算部门。
依据美国国立神经疾病与中风研究所及阿尔茨海默病及相关疾病协会的标准，对26名65岁及以上的患者进行标准化痴呆评估以确诊AD。招募了26名对照受试者并进行类似评估。对所有患者和对照受试者进行APOE等位基因类型测定。采用适当的统计分析方法比较切罗基族血统的遗传程度、APOE等位基因类型和AD的发病情况。
数据表明，随着切罗基印第安人血统的遗传程度增加，AD的发病率降低。9名切罗基族血统遗传程度大于50%的AD患者占AD组的35%。其余17名切罗基族血统小于50%的AD患者占AD组的65%。相比之下，17名（65%）对照受试者的切罗基族血统大于50%；只有9名（35%）小于50%。AD的这些比例不受E4等位基因影响。切罗基族血统的遗传程度与AD之间的这种负相关关系，独立于APOEE4等位基因状态，随着年龄增长而减弱，表明切罗基族存在与年龄相关的保护作用。对于切罗基族血统每降低10%，65岁时患AD的几率估计高9.00倍，但80岁时仅高1.34倍。
切罗基族血统的遗传程度越高，患AD的风险越低，因此似乎具有保护作用。这种保护性遗传因素独立于APOE等位基因类型，且随着年龄增长而减弱。
