Association study of the ubiquilin gene with Alzheimer's disease

作者：Bensemain, Faiza; Chapuis, Julien; Tian, Jinzhou; Shi, Jing; Thaker, Uma; Lendon, Corinne; Iwatsubo, Takeshi; Amouyel, Philippe; Mann, David; Lambert, Jean-Charles^*

来源：Neurobiology of Disease, 2006, 22(3): 691-693.

DOI：10.1016/j.nbd.2006.01.007

• Alzheimer
• ubiquilin
• polymorphism
• genetic determinant
• splicing

Recently, the ubiquilin 1 gene has been proposed as a major candidate gene for AD. Here, we have investigated the potential impact of the UBQ-8i polymorphism (rs12344615) within this gene on the risk of developing AD. No association of this polymorphism with the disease was observed in a large French case-control population. Furthermore, no relationship between this polymorphism and A load or degree of neurofibrillary degeneration in the brains of 114 patients with AD was detected.

• 出版日期2006-6
• 单位北京中医药大学