B139N Clinical Sciences Building, 8440-112 Street, University of Alberta, Edmonton T6G 2G3, Alberta, Canada.
Postgrad Med J. 2012 Sep;88(1043):522-9. doi: 10.1136/postgradmedj-2011-130363. Epub 2012 Apr 29.
Alzheimer's disease (AD) is a highly prevalent condition that predominantly affects older adults. AD is a complex multifactorial disorder with a number of genetic, epigenetic and environmental factors which ultimately lead to premature neuronal death. Predictive and susceptibility genes play a role in AD. Early-onset familial AD is a rare autosomal dominant disorder. Genome-wide association studies have identified many potential susceptibility genes for late-onset AD, but the clinical relevance of many of these susceptibility genes is unclear. The genetic variation by susceptibility genes plays a crucial role in determining the risk of late-onset AD, as well as the onset of the disease, the course of the AD and the therapeutic response of patients to conventional drugs for AD. The newer understanding of the epigenetics in AD has also been highlighted. Recent advances in genetics, epigenetics and pharmacogenetics of AD pose new challenges to the future management of AD.
阿尔茨海默病(AD)是一种高发疾病,主要影响老年人。AD 是一种复杂的多因素疾病,有许多遗传、表观遗传和环境因素,最终导致神经元过早死亡。预测性和易感性基因在 AD 中发挥作用。早发性家族性 AD 是一种罕见的常染色体显性遗传病。全基因组关联研究已经确定了许多潜在的晚发性 AD 易感基因,但其中许多易感基因的临床相关性尚不清楚。易感基因的遗传变异在确定晚发性 AD 的风险,以及疾病的发病、AD 的病程以及患者对 AD 常规药物的治疗反应方面起着至关重要的作用。AD 中的表观遗传学也得到了强调。AD 在遗传学、表观遗传学和药物遗传学方面的最新进展对 AD 的未来管理提出了新的挑战。