The complement receptor 1 (CR1) gene encodes a transmembrane glycoprotein that functions in the innate immune system. CR1 is expressed on blood cells and microglia. As a receptor for the complement components C3b and C4b, CR1 helps regulate activation of the complement cascade and promotes phagocytosis of immune complexes and cellular debris ...

2018年12月4日 · The CR1 gene sequence has exons 4 through 20 flanked by LoxP sites and exons 13 through 20 flanked by FRT sites. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exons 4 through 20 of the human CR1 gene deleted, effectively ablating the human CR1 allele.

2023年10月4日 · Variations in complement receptor 1 (CR1) have been associated with an increased risk for AD (Almeida et al., 2018) and with effects on imaging biomarkers of AD (Zhu et al., 2017). This mutant line was generated by crossing APOE4/Trem2*R47H mice to mice in which the endogenous Cr2 gene was replaced with human CR1 and CR2 ( …

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol. 2010 Dec;67(12):1473-84. PubMed. Bettens K, Sleegers K, Van Broeckhoven C. Genetic insights in Alzheimer's disease. Lancet Neurol. 2013 Jan;12(1):92-104. PubMed.

2015年11月13日 · Several SNPs near the complement receptor 1 (CR1) gene also associate with late-onset AD (see Jul 2009 conference news). The receptor plays a role in the innate immune system, where it limits complement-mediated damage to host cells. Because it also promotes phagocytosis, researchers believe it may contribute to Aβ clearance.

2011年3月25日 · The complement receptor gene CR1 is an AD risk gene, currently occupying place 6 on the AlzGene Top Results ranking. “That is very novel and interesting, and has major implications for brain injury and neurodegenerative disease—certainly Alzheimer’s,” said Orly Lazarov of the University of Illinois at Chicago in an interview with ARF.

2010年3月26日 · Analysis of fractalkine receptor CX(3)CR1 function by targeted deletion and green fluorescent protein reporter gene insertion. Mol Cell Biol. 2000 Jun;20(11):4106-14. PubMed. Recommends. Please login to recommend the paper. Comments. No Available Comments. Make a Comment. To make a comment you must login or register.

2014年9月5日 · Sometimes the eQTL showed up within the gene it regulated. For example, a risk SNP for Alzheimer’s disease that lies within the complement receptor 1 gene on chromosome 1 turned out to be an eQTL for the CR1 gene (see Jun 2010 news story). No big surprise.

2025年1月17日 · Alzheimer's Disease Risk Gene SORL1 Promotes Receptiveness of Human Microglia to Pro-Inflammatory Stimuli. Glia. 2024 Dec 17; Epub 2024 Dec 17 PubMed. Mishra S, Jayadev S, Young JE. Differential effects of SORL1 deficiency on the endo-lysosomal network in human neurons and microglia.

2024年10月17日 · The study of nearly 8,000 autopsied participants found four new risk loci: a microglial gene associated with tangles, two genes related to hardening of cerebral arteries, and an independent signal near the APOE locus that correlated with cerebral amyloid angiopathy. The study also tied 19 known Alzheimer’s genes to specific endophenotypes.