Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA. ; Department of Psychiatry, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong.
Clin Psychopharmacol Neurosci. 2011 Aug;9(2):54-66. doi: 10.9758/cpn.2011.9.2.54. Epub 2011 Aug 31.
Alzheimer's disease (AD) is the most prevalent form of dementia. Biomarkers such as levels of amyloid beta (Aβ) in cerebrospinal fluid and ApoE genotyping were suggested for the diagnosis of AD, however, the result is either non-conclusive or with invasive procedure. Genome-wide association studies (GWASs) for AD suggested single nucleotide polymorphisms (SNPs) in many genes are associated with the risk of AD, but each only contributed with small effect to the disease. By incorporating a panel of established genetic susceptibility factors, the risk of an individual in getting AD could be better estimated. Further research will be required to reveal if adding to the current well-developed clinical diagnosis protocol, the accuracy and specificity of diagnosis of AD would be greatly improved and if this might also be beneficial in identifying pre-symptomatic AD patients for early diagnosis and intervention of the disease.
阿尔茨海默病（AD）是最常见的痴呆症形式。生物标志物，如脑脊液中的淀粉样蛋白β（Aβ）水平和载脂蛋白 E 基因分型，被建议用于 AD 的诊断，然而，结果要么不确定，要么具有侵入性。AD 的全基因组关联研究（GWAS）表明，许多基因中的单核苷酸多态性（SNP）与 AD 的风险相关，但每个 SNP 对疾病的贡献都很小。通过纳入一组已确立的遗传易感性因素，可以更好地估计个体患 AD 的风险。需要进一步的研究来揭示，如果将其添加到当前发达的临床诊断方案中，AD 的诊断准确性和特异性是否会大大提高，以及这是否也有助于识别无症状 AD 患者，以便早期诊断和干预疾病。
