Kehoe P, Williams J, Holmans P, Liddell M, Lovestone S, Holmes C, Powell J, Neal J, Wilcock G, Owen M J
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
Neuroreport. 1996 Sep 2;7(13):2155-8. doi: 10.1097/00001756-199609020-00019.
Previous work suggests an association between allele 1 and the 1-1 genotype of an intronic polymorphism in the presenilin-1 (PS-1) gene and late onset Alzheimer's disease. We found an excess of the 1-1 genotype in our late onset clinical sample (p = 0.006, one-tailed) but not in our postmortem confirmed sample, which instead exhibited an excess of allele 1 (p = 0.02, one-tailed). No interaction between PS-1 and ApoE genotype was detected and the findings remained significant when the effects of ApoE were taken into account (p = 0.03, one-tailed). These results suggest that the PS-1 polymorphism, or a locus in linkage disequilibrium with it, acts as a risk factor for late onset AD.
先前的研究表明，早老素-1（PS-1）基因内含子多态性的1等位基因与1-1基因型和晚发型阿尔茨海默病之间存在关联。我们在晚发型临床样本中发现1-1基因型的比例过高（p = 0.006，单尾检验），但在尸检确诊样本中未发现这种情况，相反，该样本中1等位基因的比例过高（p = 0.02，单尾检验）。未检测到PS-1与载脂蛋白E（ApoE）基因型之间存在相互作用，并且在考虑ApoE的影响后，研究结果仍然显著（p = 0.03，单尾检验）。这些结果表明，PS-1多态性或与其处于连锁不平衡的一个基因座，是晚发型阿尔茨海默病的一个风险因素。
