Miyashita Akinori, Arai Hiroyuki, Asada Takashi, Imagawa Masaki, Shoji Mikio, Higuchi Susumu, Urakami Katsuya, Toyabe Shinichi, Akazawa Kohei, Kanazawa Ichiro, Ihara Yasuo, Kuwano Ryozo
Department of Molecular Genetics, Bioresource Science Branch, Center for Bioresources, Brain Research Institute, Niigata University, Niigata, Japan.
Eur J Hum Genet. 2009 May;17(5):682-6. doi: 10.1038/ejhg.2008.181. Epub 2008 Oct 15.
The varepsilon4 allele of the apolipoprotein E gene (APOE) is unequivocally recognized as a genetic risk factor for late-onset Alzheimer's disease (LOAD). Recently, single-nucleotide polymorphisms (SNPs) of the GRB2-associated binding protein 2 gene (GAB2) were shown to be associated with LOAD in Caucasians carrying the APOE-varepsilon4 allele through a genome-wide association study. Here, we attempted to replicate the finding by genotyping these SNPs in a large clinical cohort of Japanese. We observed no association of any of the SNPs with LOAD. GAB2 may not be a disease susceptibility gene for LOAD in Japanese.
载脂蛋白E基因（APOE）的ε4等位基因被明确认为是晚发性阿尔茨海默病（LOAD）的遗传风险因素。最近，通过全基因组关联研究表明，GRB2相关结合蛋白2基因（GAB2）的单核苷酸多态性（SNP）与携带APOE-ε4等位基因的白种人中的LOAD相关。在此，我们试图通过对一大群日本临床队列中的这些SNP进行基因分型来重复这一发现。我们未观察到任何SNP与LOAD相关。在日本人中，GAB2可能不是LOAD的疾病易感基因。
