Silverman J M, Smith C J, Marin D B, Birstein S, Mare M, Mohs R C, Davis K L
Department of Psychiatry, Mt. Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA.
Am J Hum Genet. 1999 Mar;64(3):832-8. doi: 10.1086/302280.
Elderly individuals who lived beyond the age of 90 years without dementia were hypothesized to have increased concentrations of genetic protective factors against Alzheimer disease (AD), conferring a reduced liability for this disease relative to less-aged nondemented elderly. However, testing this hypothesis is complicated by having to distinguish such a group from those who may lack genetic risk factors for AD, have had protective environmental exposures, or have escaped dementia for other reasons. Probands carrying genetic protective factors, however, should have relatives with lower illness rates not only for earlier-onset disease, when genetic risk factors are a strong contributing factor to the incidence of AD, but also for later-onset disease, when the role of these factors appears to be markedly diminished. AD dementia was assessed through family informants in 6,660 first-degree relatives of 1,049 nondemented probands aged 60-102 years. The probands were grouped by age (60-74, 75-89, and 90-102 years), and the cumulative survival from AD and 10-year-age-interval hazard rates of AD were calculated in their first-degree relatives. Cumulative survival from AD was significantly greater in the relatives of the oldest proband group (aged 90-102 years) than it was in the two younger groups. In addition, the reduction in the rate of illness for this group was relatively constant across the entire late life span. The results suggest that genetic factors conferring a lifelong reduced liability of AD may be more highly concentrated among nondemented probands aged >/=90 years and their relatives. Efforts to identify protective allele-bearing genes that are associated with very late-onset AD should target the families of nonagenarians and centenarians.
据推测,活到90岁以上且无痴呆症的老年人具有更多针对阿尔茨海默病(AD)的遗传保护因子,与年龄较小的无痴呆症老年人相比,患这种疾病的可能性降低。然而,要验证这一假设很复杂,因为必须将这一群体与那些可能缺乏AD遗传风险因素、有保护性环境暴露或因其他原因未患痴呆症的人区分开来。然而,携带遗传保护因子的先证者的亲属不仅在早发性疾病(此时遗传风险因素是AD发病的重要因素)中的患病率较低,而且在晚发性疾病(此时这些因素的作用似乎明显减弱)中的患病率也较低。通过家庭 informant 对1049名60 - 102岁无痴呆症先证者的6660名一级亲属进行了AD痴呆评估。先证者按年龄分组(60 - 74岁、75 - 89岁和90 - 102岁),并计算其一级亲属中AD的累积生存率和10年年龄间隔AD风险率。年龄最大的先证者组(90 - 102岁)的亲属中AD的累积生存率显著高于两个较年轻的组。此外,该组疾病发生率的降低在整个晚年相对恒定。结果表明,赋予终身降低AD患病可能性的遗传因素可能在90岁及以上的无痴呆症先证者及其亲属中更为集中。识别与极晚发性AD相关的携带保护性等位基因的基因的工作应针对九旬老人和百岁老人的家庭。