Bamne Mikhil N, Demirci F Yesim, Berman Sarah, Snitz Beth E, Rosenthal Samantha L, Wang Xingbin, Lopez Oscar L, Kamboh M Ilyas
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Department of Neurology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Neurobiol Aging. 2014 Jul;35(7):1779.e15-6. doi: 10.1016/j.neurobiolaging.2014.01.020. Epub 2014 Jan 23.
A rare amyloid precursor protein gene variant, A673T (rs63750847) was recently reported to protect against Alzheimer's disease and age-related cognitive decline among Icelanders and the same rare variant was observed also in Finnish, Norwegian, and Swedish populations. We investigated this variant in 1674 late-onset Alzheimer's disease cases and 2644 elderly control subjects, all North American Whites (US Whites). We did not observe any example of the A673T variant in our large sample. Our findings suggest that this rare variant could be specific to the individuals of the origin from the Nordic countries.
一种罕见的淀粉样前体蛋白基因变体，A673T（rs63750847），最近有报道称其可预防冰岛人的阿尔茨海默病和与年龄相关的认知衰退，并且在芬兰、挪威和瑞典人群中也观察到了同样的罕见变体。我们在1674例晚发性阿尔茨海默病病例和2644例老年对照受试者中研究了这种变体，所有受试者均为北美白人（美国白人）。在我们的大样本中，未观察到A673T变体的任何实例。我们的研究结果表明，这种罕见变体可能特定于北欧国家的人群。
