小柯机器人

一项大规模全基因组关联研究发现阿尔茨海默病的新风险位点
2021-09-10 15:41

荷兰阿姆斯特丹自由大学Danielle Posthuma团队发现阿尔茨海默病的新风险位点。2021年9月7日出版的《自然—遗传学》杂志发表了这项成果。

研究人员表明,增加样本量能够发现七个以前未知的导致阿尔茨海默病的基因位点。这项研究强调了小胶质细胞、免疫细胞和蛋白质分解与晚期阿尔茨海默病有关,同时确定了以前未知的潜在兴趣基因并将其列为优先研究对象。研究人员预计这些结果可以包括在更大的阿尔茨海默病元分析中,从而确定更多有助于阿尔茨海默病病理的基因变异。

据了解,晚发性阿尔茨海默病是一种普遍的与年龄有关的多基因疾病,占痴呆症病例的50-70%。目前,只有一部分阿尔茨海默病的基础基因变体被确认。

附:英文原文

Title: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease

Author: Wightman, Douglas P., Jansen, Iris E., Savage, Jeanne E., Shadrin, Alexey A., Bahrami, Shahram, Holland, Dominic, Rongve, Arvid, Brte, Sigrid, Winsvold, Bendik S., Drange, Ole Kristian, Martinsen, Amy E., Skogholt, Anne Heidi, Willer, Cristen, Brthen, Geir, Bosnes, Ingunn, Nielsen, Jonas Bille, Fritsche, Lars G., Thomas, Laurent F., Pedersen, Linda M., Gabrielsen, Maiken E., Johnsen, Marianne Bakke, Meisingset, Tore Wergeland, Zhou, Wei, Proitsi, Petroula, Hodges, Angela, Dobson, Richard, Velayudhan, Latha, Sealock, Julia M., Davis, Lea K., Pedersen, Nancy L., Reynolds, Chandra A., Karlsson, Ida K., Magnusson, Sigurdur, Stefansson, Hreinn, Thordardottir, Steinunn, Jonsson, Palmi V., Snaedal, Jon, Zettergren, Anna, Skoog, Ingmar, Kern, Silke, Waern, Margda, Zetterberg, Henrik, Blennow, Kaj, Stordal, Eystein, Hveem, Kristian, Zwart, John-Anker, Athanasiu, Lavinia, Selnes, Per, Saltvedt, Ingvild, Sando, Sigrid B., Ulstein, Ingun, Djurovic, Srdjan, Fladby, Tormod

Issue&Volume: 2021-09-07

Abstract: Late-onset Alzheimer’s disease is a prevalent age-related polygenic disease that accounts for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying Alzheimer’s disease have been identified. Here we show that increased sample sizes allowed identification of seven previously unidentified genetic loci contributing to Alzheimer’s disease. This study highlights microglia, immune cells and protein catabolism as relevant to late-onset Alzheimer’s disease, while identifying and prioritizing previously unidentified genes of potential interest. We anticipate that these results can be included in larger meta-analyses of Alzheimer’s disease to identify further genetic variants that contribute to Alzheimer’s pathology. A genome-wide association study performed in 1,126,563 individuals identifies seven new loci associated with Alzheimer’s disease and implicates microglia and immune cells in late-onset disease.

DOI: 10.1038/s41588-021-00921-z

Source: https://www.nature.com/articles/s41588-021-00921-z

Nature Genetics:《自然—遗传学》,创刊于1992年。隶属于施普林格·自然出版集团,最新IF:41.307
官方网址:https://www.nature.com/ng/
投稿链接:https://mts-ng.nature.com/cgi-bin/main.plex


本期文章:《自然—遗传学》:Online/在线发表

分享到:

0