The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
TREM2 Variants in Alzheimer's Disease
Open accessAbstract
BACKGROUND: Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. METHODS: We used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1092 patients with Alzheimer's disease and 1107 controls (the discovery set). We then performed a meta-analysis on imputed data for the TREM2 variant rs75932628 (predicted to cause a R47H substitution) from three genomewide association studies of Alzheimer's disease and tested for the association of the variant with disease. We genotyped the R47H variant in an additional 1887 cases and 4061 controls. We then assayed the expression of TREM2 across different regions of the human brain and identified genes that are differentially expressed in a mouse model of Alzheimer's disease and in control mice. RESULTS: We found significantly more variants in exon 2 of TREM2 in patients with Alzheimer's disease than in controls in the discovery set (P=0.02). There were 22 variant alleles in 1092 patients with Alzheimer's disease and 5 variant alleles in 1107 controls (P<0.001). The most commonly associated variant, rs75932628 (encoding R47H), showed highly significant association with Alzheimer's disease (P<0.001). Meta-analysis of rs75932628 genotypes imputed from genomewide association studies confirmed this association (P=0.002), as did direct genotyping of an additional series of 1887 patients with Alzheimer's disease and 4061 controls (P<0.001). Trem2 expression differed between control mice and a mouse model of Alzheimer's disease. CONCLUSIONS: Heterozygous rare variants in TREM2 are associated with a significant increase in the risk of Alzheimer's disease. (Funded by Alzheimer's Research UK and others.).
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Genome-wide association studies (GWAS) have identified multiple loci associated with AD including to name a few, variants in PICALM , CLU , ATP-binding cassette transporter A7 ( ABCA7 ), sortilin related receptor-1 ( SORL1 ), complement receptor 1 ( CR1 ), triggering receptor expressed on myeloid cells 2 ( TREM2 ), and bridging integrator 1 ( BIN1 ) genes (219, 236, 254, 300, 343, 344, 528, 543).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [219]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“TREM2 (219, 300, 543) and two novel rare coding variants, PLCG2 and ABI3 , implicate innate immunity in AD pathophysiology (543), but whether these variants can influence vascular-inflammatory cross-talk contributing to AD pathophysiology remains unclear.”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [219]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Genome-wide association studies (GWAS) identified many AD risk genes related to the immune response and microglia, including those implicated in phagocytosis, such as CD33 and TREM24,5,6,7,8.”
From Amyloid-β induces lipid droplet-mediated microglial dysfunction via the enzyme DGAT2 in Alzheimer’s disease (2025) · cites this paper as [7]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“PLCG2 has also been shown to be a downstream component of TREM2 signaling, an important microglial AD risk gene. 7 , 8”
From The P522R protective variant of PLCG2 promotes the expression of antigen presentation genes by human microglia in an Alzheimer's disease mouse model (2022) · cites this paper as [7]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Human genetic studies have linked rare coding variants in microglial genes, such as TREM2, and more recently PLCG2 to Alzheimer’s disease (AD) pathology.”
From PLCγ2 regulates TREM2 signalling and integrin-mediated adhesion and migration of human iPSC-derived macrophages (2021) · cites this paper as [2]
Experimental — accuracy not yet measured
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“In TREM2 gene, several AD associated risk increasing variants have been recognized, such as R47H and R62H [1, 13–15].”
From Protective PLCG2 variants associate with a delayed onset of Alzheimer’s disease among heterozygous APOE ε4 carriers (2026) · cites this paper as [15]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The TREM2-R62H (AF = 0.0078) is more common in the Finnish population than the more widely known TREM2-R47H (AF = 0.00045) AD risk variant [15, 25].”
From Protective PLCG2 variants associate with a delayed onset of Alzheimer’s disease among heterozygous APOE ε4 carriers (2026) · cites this paper as [15]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“AD-associated TREM2 risk variants – including p.H157Y, p.R98W, p.D87N, p.T66M, p.R62H, p.R47H, p.Y38C and p.Q33X [6, 43] – affect TREM2 function by various mechanisms”
From TREM2/PLCγ2 signalling in immune cells: function, structural insight, and potential therapeutic modulation (2021) · cites this paper as [6]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The most characterised variant of TREM2 (p.R47H) shows defects in ligand binding [6, 37, 38, 97], which impacts the ability of TREM2 to recognise damage, and induce microglial changes, resulting in a dampened response to pathological insults such as Aβ deposition.”
From TREM2/PLCγ2 signalling in immune cells: function, structural insight, and potential therapeutic modulation (2021) · cites this paper as [6]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Most of the genes associated with the ~40 loci identified by genome-wide association (GWA) analysis or by rare variant sequencing studies are expressed in glial cells (e.g., APOE, TREM2, BIN1, CD33, INPP5D, CTSB, CTSD, and PICALM).”
From The Major Risk Factors for Alzheimer’s Disease: Age, Sex, and Genes Modulate the Microglia Response to Aβ Plaques (2019) · cites this paper as Guerreiro et al., 2013
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“For instance, TREM2 is one of the strongest risk factors for AD, and evidence suggests that TREM2 acts to recognize Aβ pathology and direct microglial responses toward the pathology (Guerreiro et al., 2013; Zhou et al., 2020).”
From β-amyloid accumulation enhances microtubule associated protein tau pathology in an APPNL-G-F/MAPTP301S mouse model of Alzheimer’s disease (2024) · cites this paper as Guerreiro et al., 2013
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Third, recent genetic studies implicate inflammatory genes and pathways (CD33, TREM2, HLA-DRB5-DRB1) in late-onset disease pathology (112–115).”
From The Inflammatory Continuum of Traumatic Brain Injury and Alzheimer’s Disease (2018) · cites this paper as [113]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“These studies have identified several common variants of several new genes to be associated with LOAD, but, with the exception of variants of triggering receptor expressed on myeloid cells 2, no rare variants were identified (49,50).”
From Molecular Basis for Increased Risk for Late-onset Alzheimer Disease Due to the Naturally Occurring L28P Mutation in Apolipoprotein E4 (2014) · cites this paper as [50]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The TREM2 variant R47H, for example, was discovered using a study design that preserved statistical power by focusing solely on genetic variants that were likely to affect protein function [11, 12]”
From Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2017) · cites this paper as [12]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Retromer has also been implicated in the trafficking of the microglia receptor Triggering receptor expressed on myeloid cells 2 (TREM2), with mutations in TREM2 associated with an increased risk for developing AD [154, 155].”
From Global identification of neuronal and astrocytic integral membrane proteins that require Retromer for their endosomal recycling (2026) · cites this paper as [154]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“At the genetic level, GWAS and sequencing studies have found associations between AD and genes expressed in myeloid cells, including TREM2, ABCA7, and CD331,2,5,15–17.”
From A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease (2017) · cites this paper as [16]
The cited source says what the claim attributes to it.
In the citing paper
“Nearly 30 LOAD susceptibility loci2-12 are known, and risk is significantly polygenic13.”
From Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) · cites this paper as [11]
The cited source says what the claim attributes to it.
In the citing paper
“Recent sequencing studies identified a number of genes that have rare variants associated with AD9-11,18-24.”
From Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) · cites this paper as [11]
The cited source says what the claim attributes to it.
In the citing paper
“We also observed evidence for the previously reported9,11 TREM2 rare variant p.R47H (Table 2).”
From Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) · cites this paper as [11]
The cited source says what the claim attributes to it.
In the citing paper
“Some additional highly replicated risk genes include CR1 , BIN1 , and TREM2 (94, 119, 219, 300, 344, 543).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [219]
The cited source says what the claim attributes to it.
In the citing paper
“Another, more recently identified risk factor is the triggering receptor expressed on myeloid cells 2 (TREM2), where genetic variants also increase SAD risk [145].”
From Neuron Loss in Alzheimer’s Disease: Translation in Transgenic Mouse Models (2020) · cites this paper as [145]
The cited source says what the claim attributes to it.
In the citing paper
“Polymorphisms in the R47H allele of the TREM2 gene have recently been identified as a strong genetic risk factor for the development of AD,13 though the actual impact of these polymorphisms on microglial function remain unclear.”
From Markers of microglia in post-mortem brain samples from patients with Alzheimer’s disease: a systematic review (2018) · cites this paper as [13]
The cited source says what the claim attributes to it.
In the citing paper
“Coding alterations in TREM2, a transmembrane glycoprotein expressed on myeloid lineage cells that modulates innate immune function [1], dramatically increase the risk of developing late-onset Alzheimer’s disease (LOAD) [2,3].”
From TREM2-Deficient Microglia Attenuate Tau Spreading In Vivo (2023) · cites this paper as [2]
The cited source says what the claim attributes to it.
In the citing paper
“In the brain, PLCγ2 is primarily expressed by microglia, where it serves as an important signaling node downstream of TREM2 and CD33 (19, 20), both also AD risk genes (21–23).”
From Multi-omics analyses reveal novel effects of PLCγ2 deficiency in the mouse brain (2023) · cites this paper as [22]
The cited source says what the claim attributes to it.
In the citing paper
“Within the brain, PLCγ2 is primarily but not exclusively expressed in microglia, where it serves as an important signaling node downstream of TREM2 and CD33 [31, 32], both also AD risk genes [33–35].”
From PLCγ2 deficiency compromises systemic immune tolerance and erodes myelin homeostasis while enhancing oxidative metabolism in the mouse brain (2026) · cites this paper as [34]
The cited source says what the claim attributes to it.
In the citing paper
“TREM2 is a transmembrane receptor expressed on the membrane of myeloid cells and an important susceptibility gene for AD [5].”
From Alzheimer’s disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph (2019) · cites this paper as [5]
The cited source says what the claim attributes to it.
In the citing paper
“Mutations in TREM2 have been associated with increased risk of AD [5, 18].”
From Alzheimer’s disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph (2019) · cites this paper as [5]
The cited source says what the claim attributes to it.
In the citing paper
“Importantly, TREM2 variants associate with an increased risk of AD [15, 25, 38–40].”
From Protective PLCG2 variants associate with a delayed onset of Alzheimer’s disease among heterozygous APOE ε4 carriers (2026) · cites this paper as [15]
The cited source says what the claim attributes to it.
In the citing paper
“TREM2 R47H mutations impair ApoE binding88 and increase the risk of human AD,93”
From Cystatin C is glucocorticoid responsive, directs recruitment of Trem2+ macrophages, and predicts failure of cancer immunotherapy (2023) · cites this paper as [93]
The cited source says what the claim attributes to it.
In the citing paper
“Several variants in TREM2 have been linked to increased LOAD risk [1, 6].”
From TREM2/PLCγ2 signalling in immune cells: function, structural insight, and potential therapeutic modulation (2021) · cites this paper as [6]
The cited source says what the claim attributes to it.
In the citing paper
“The last decade has seen a plethora of studies linking immune-relate genes to AD [1, 6]”
From TREM2/PLCγ2 signalling in immune cells: function, structural insight, and potential therapeutic modulation (2021) · cites this paper as [6]
The cited source says what the claim attributes to it.
In the citing paper
“For example, TREM2 p.H157Y (rs2234255) has been detected not only in Caucasians [35] but also in Chinese [40] and Japanese [24], and the significance of this variant has been confirmed in the Chinese population (Table 4) [40].”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [35]
The cited source says what the claim attributes to it.
In the citing paper
“The first well-known rare variant for AD is the p.R47H variant (rs75932628) in TREM2, which was independently identified by two research groups in 2013 [35, 36].”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [35]
The cited source says what the claim attributes to it.
In the citing paper
“NGS allowed the identification of rare variants in TREM2 as major genetic risk factors for AD [39, 65].”
From The new genetic landscape of Alzheimer’s disease: from amyloid cascade to genetically driven synaptic failure hypothesis? (2019) · cites this paper as [39]
The cited source says what the claim attributes to it.
In the citing paper
“Recently, several possibly functional, rare variants with large protective [9, 10] and risk effects [11–13] have been identified for AD in APP, APOE, PLD3, and TREM2 using novel study designs.”
From Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience (2017) · cites this paper as [12]
The cited source says what the claim attributes to it.
In the citing paper
“Loss-of-function (LOF) variants of TREM2, an immune receptor expressed in microglia, increase Alzheimer’s disease risk.”
From TREM2 regulates microglial cholesterol metabolism upon chronic phagocytic challenge (2020) · cites this paper as Guerreiro et al., 2013
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“Genes were defined without surrounding genomic sequence, as this yielded the most significant excess of enriched pathways in the common variation dataset11.”
From Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) · cites this paper as [11]
Experimental — accuracy not yet measuredIn the citing paper
“Neuroinflammation is a common feature of AD9 and GWAS have associated several immune-related genes with AD including ABCA7, CD33, CLU, CR1, MS4A10, 11 and recently TREM2.12, 13”
From Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease (2015) · cites this paper as [12]
In the citing paper
“The Stage 1 discovery meta-analysis produced 12 loci with genome-wide significance (P ≤ 5 × 10−8) (Table 1), all of which are previously described1,4–11.”
From Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) · cites this paper as [8]
In the citing paper
“Three other signals were not initially described in the initial IGAP GWAS: the rare R47H TREM2 coding variant previously reported by others7,8,14; ECHDC3 (rs7920721; NC_000010.10: g.11720308A>G), which was recently identified as a potential genome-wide-significant Alzheimer’s disease risk locus in several studies15–17, and ACE (rs138190086; NC_000017.10: g.61538148G>A)”
From Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) · cites this paper as [8]
In the citing paper
“When not considering fetal astrocytes, mature astrocytes (21%), and microglial cells (20.3%), the resident macrophage cells of the brain thought to play a key role in the pathologic immune response in LOAD8,14,60, became the highest expressed cell types in the genome-wide set of genes, with 5.3% of the 400 genes showing high microglial expression”
From Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) · cites this paper as [8]
In the citing paper
“an increased risk for developing AD is significantly associated with rare variants of innate immune receptors expressed in microglia, including TREM2 (107, 108), CD33 (109), and complement receptor 1 (CR1) (110)”
From Microglia Function in the Central Nervous System During Health and Neurodegeneration (2017) · cites this paper as [107]
In the citing paper
“A rare arginine 47 histidine (R47H) variant of TREM2 is associated with an increased risk for AD (107, 108). This variant impairs binding of TREM2 to many phospholipid ligands (114, 125).”
From Microglia Function in the Central Nervous System During Health and Neurodegeneration (2017) · cites this paper as [107]
In the citing paper
“TREM2, a pivotal risk factor for LOAD [119, 120], is associated with tau pathology.”
From Tau and neuroinflammation in Alzheimer’s disease: interplay mechanisms and clinical translation (2023) · cites this paper as [120]
In the citing paper
“rare genetic variants associated with AD (found by gene sequencing or exome array) have also implicated microglia in determining the risk of AD (Guerreiro et al., 2013; Jonsson et al., 2013; Sims et al., 2017).”
From Microglia in Alzheimer’s disease (2018) · cites this paper as Guerreiro et al., 2013
In the citing paper
“The TREM2 mutation most clearly associated with AD (R47H, carried by <0.5% of most populations) increases the risk of AD approximately threefold (Guerreiro et al., 2013; Jonsson et al., 2013).”
From Microglia in Alzheimer’s disease (2018) · cites this paper as Guerreiro et al., 2013
In the citing paper
“Notably, variants of TREM2, an immunoglobulin-like cell-surface receptor primarily expressed on microglia in the brain, were recently found to confer a 2 to 4-fold increased risk for AD [83].”
From Glial contributions to neurodegeneration in tauopathies (2017) · cites this paper as [83]
In the citing paper
“GWAS showed that the R47H variant of TREM2 was associated with a 2- to 4-fold increased risk for the development of AD.”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [163]
In the citing paper
“Many risk genes for the development of Alzheimer’s disease (AD) are exclusively or highly expressed in myeloid cells.”
From Sustained microglial depletion with CSF1R inhibitor impairs parenchymal plaque development in an Alzheimer’s disease model (2019) · cites this paper as [5]
In the citing paper
“Genetic studies show that a number of genes that have been linked to early-onset AD risk are expressed primarily in microglia.”
From Microglial signatures and their role in health and disease (2018) · cites this paper as [127]
In the citing paper
“We and others identified the microglial gene TREM2 as a potent risk gene for late-onset disease (Guerreiro et al., 2013; Jonsson et al., 2013)”
From Genetic variability in response to amyloid beta deposition influences Alzheimer’s disease risk (2019) · cites this paper as Guerreiro et al., 2013
In the citing paper
“and identified that its expression was strongly increased by amyloid deposition in APP transgenic mice (Guerreiro et al., 2013; Matarin et al., 2015; Cheng-Hathaway et al., 2018; Song et al., 2018).”
From Genetic variability in response to amyloid beta deposition influences Alzheimer’s disease risk (2019) · cites this paper as Guerreiro et al., 2013
In the citing paper
“A decade of GWAS projects for Alzheimer’s disease has provided key and initially surprising insights into the progression of late-onset Alzheimer’s disease, particularly the dependence on the innate immune system, with the identification of genes such as TREM2 and SPI1/PU.1”
From Genetic variability in response to amyloid beta deposition influences Alzheimer’s disease risk (2019) · cites this paper as Guerreiro et al., 2013
In the citing paper
“identified variants in TREM2 (“triggering receptor expressed on myeloid cells 2”) as risk factors for LOAD [24, 25]”
From Microglial dysfunction in brain aging and Alzheimer's disease (2014) · cites this paper as [24]
In the citing paper
“One of the most well-studied rare variants that confers elevated risk for AD is the R47H variant in TREM2 [131, 132].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [132]
In the citing paper
“The mutation in TREM2, has been associated with a three-fold higher risk to develop AD [122].”
From Role of Oxidative Damage in Alzheimer’s Disease and Neurodegeneration: From Pathogenic Mechanisms to Biomarker Discovery (2021) · cites this paper as [122]
In the citing paper
“In addition, two groups of investigators independently identified variants of the microglial TREM2 gene that increase susceptibility to LOAD with an odds ratio similar to that of APOEε4 [56–58].”
From Systems-based proteomics to resolve the biology of Alzheimer’s disease beyond amyloid and tau (2021) · cites this paper as [56]
In the citing paper
“Variants of the microglial TREM2 gene have been found to increase the risk of sporadic AD by approximately 3- to 5-fold [56, 57].”
From Systems-based proteomics to resolve the biology of Alzheimer’s disease beyond amyloid and tau (2021) · cites this paper as [56]
In the citing paper
“Genome-wide association studies have reported that, amongst other microglial genes, variants in TREM2 can profoundly increase the incidence of developing Alzheimer’s disease (AD).”
From Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions (2020) · cites this paper as [2]
In the citing paper
“This might be one of the major mechanisms underlying various neurodegenerative diseases with advanced age by suppression of WT TREM2 in many sporadic cases, considering that TREM2 variants associated with loss-of-function are extremely rare in frequency in humans (2).”
From Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions (2020) · cites this paper as [2]
In the citing paper
“Data from human genetics, particularly with respect to the hypomorphic R47H allele of TREM2 that strongly increases risk for AD (32, 33, 102), provide strong evidence for a protective role for microglia.”
From The Transcriptional Landscape of Microglial Genes in Aging and Neurodegenerative Disease (2019) · cites this paper as [32]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The Sequence Alignment/Map format and SAMtools
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp352 · Cited by 62,041
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,724
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,457
Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., et al. (1991) · Nature · doi:10.1038/349704a0 · Cited by 4,659
Self-citationStrittmatter, W. J., Saunders, A. M., Schmechel, D., Pericak-Vance, M., Enghild, J., Salvesen, G. S., & Roses, A. D. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.5.1977 · Cited by 4,268
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., et al. (1995) · Nature · doi:10.1038/375754a0 · Cited by 4,051
Self-citationHowie, B. N., Donnelly, P., & Marchini, J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000529 · Cited by 3,928
Cited by
Sorted by citations
Items 701–800 of 1,085
Lesions without symptoms: understanding resilience to Alzheimer disease neuropathological changes
Gómez-Isla, T., & Frosch, M. P. (2022) · Nature Reviews Neurology · doi:10.1038/s41582-022-00642-9 · Cited by 96
Zhou, X., Chen, Y., Mok, K. Y., Zhao, Q., Chen, K., Chen, Y., Hardy, J., Li, Y., Fu, A. K. Y., Guo, Q., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1715554115 · Cited by 96
Self-citationEffect of high fat diet on phenotype, brain transcriptome and lipidome in Alzheimer’s model mice
Nam, K. N., Mounier, A., Wolfe, C. M., Fitz, N. F., Carter, A. Y., Castranio, E. L., Kamboh, H., Reeves, V. L., Wang, J., Han, X., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-04412-2 · Cited by 96
Derk, J., MacLean, M., Juranek, J., & Schmidt, A. M. (2018) · Journal of Alzheimer’s Disease & Parkinsonism · doi:10.4172/2161-0460.1000421 · Cited by 96
New fluid biomarkers tracking non-amyloid-β and non-tau pathology in Alzheimer’s disease
Park, S. A., Han, S. M., & Kim, C. E. (2020) · Experimental & Molecular Medicine · doi:10.1038/s12276-020-0418-9 · Cited by 96
Alzheimer’s disease – the journey of a healthy brain into organ failure
Golde, T. E. (2022) · Molecular Neurodegeneration · doi:10.1186/s13024-022-00523-1 · Cited by 98
Singh, N., Das, B., Zhou, J., Hu, X., & Yan, R. (2022) · Science Advances · doi:10.1126/sciadv.abo3610 · Cited by 95
Is Alzheimer’s disease an inflammasomopathy?
Pereira, C., Santos, A. E., Moreira, P. I., Pereira, A. C., Sousa, F. J., Cardoso, S. M., & Cruz, M. T. (2019) · Ageing Research Reviews · doi:10.1016/j.arr.2019.100966 · Cited by 95
Jendresen, C., Årskog, V., Daws, M. R., & Nilsson, L. N. G. (2017) · Journal of Neuroinflammation · doi:10.1186/s12974-017-0835-4 · Cited by 94
TYROBP genetic variants in early-onset Alzheimer's disease
Pottier, C., Ravenscroft, T. A., Brown, P. H., Finch, N. A., Baker, M., Parsons, M., Asmann, Y. W., Ren, Y., Christopher, E., Levitch, D., et al. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.07.028 · Cited by 94
Self-citationTREM2 in Alzheimer’s Disease: Microglial Survival and Energy Metabolism
Zheng, H., Cheng, B., Li, Y., Li, X., Chen, X., & Zhang, Y.-W. (2018) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2018.00395 · Cited by 94
The Evolution of Genetics: Alzheimer’s and Parkinson’s Diseases
Singleton, A., & Hardy, J. (2016) · Neuron · doi:10.1016/j.neuron.2016.05.040 · Cited by 94
Self-citationGenomics of Alzheimer’s disease implicates the innate and adaptive immune systems
Li, Y., Laws, S. M., Miles, L. A., Wiley, J. S., Huang, X., Masters, C. L., & Gu, B. J. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-03986-5 · Cited by 96
Evidence of Tau Hyperphosphorylation and Dystrophic Microglia in the Common Marmoset
Rodríguez-Callejas, J. D., Fuchs, E., & Perez‐Cruz, C. (2016) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2016.00315 · Cited by 94
EFAD transgenic mice as a human APOE relevant preclinical model of Alzheimerʼns disease
Tai, L. M., Balu, D., Avila-Munoz, E., Abdullah, L., Thomas, R., Collins, N., Valencia-Olvera, A. C., & LaDu, M. J. (2017) · Journal of Lipid Research · doi:10.1194/jlr.r076315 · Cited by 93
Rathore, N., Ramani, S. R., Pantua, H., Payandeh, J., Bhangale, T., Wuster, A., Kapoor, M., Sun, Y., Kapadia, S. B., Gonzalez, L., et al. (2018) · PLOS Genetics · doi:10.1371/journal.pgen.1007427 · Cited by 93
Self-citationAlzheimer’s disease polygenic risk score as a predictor of conversion from mild-cognitive impairment
Chaudhury, S. R., Brookes, K. J., Patel, T., Fallows, A., Guetta‐Baranes, T., Turton, J. C., Guerreiro, R. J., Brás, J., Hardy, J., Francis, P. T., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0485-7 · Cited by 94
Self-citationWalker, D. G., Whetzel, A. M., Serrano, G., Sue, L. I., Beach, T. G., & Lue, L.-F. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.09.023 · Cited by 93
Singhrao, S. K., & Olsen, I. (2018) · Journal of Alzheimer s Disease Reports · doi:10.3233/adr-180080 · Cited by 94
Iizasa, E., Chuma, Y., Uematsu, T., Kubota, M., Kawaguchi, H., Umemura, M., Toyonaga, K., Kiyohara, H., Yano, I., Colonna, M., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-22620-3 · Cited by 92
Smith, A. R., Smith, R. G., Condliffe, D., Hannon, E. J., Schalkwyk, L. C., Mill, J. S., & Lunnon, K. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.07.008 · Cited by 92
Aβ propagation and strains: Implications for the phenotypic diversity in Alzheimer's disease
Condello, C., & Stöhr, J. (2017) · Neurobiology of Disease · doi:10.1016/j.nbd.2017.03.014 · Cited by 92
Effects of Neurological Disorders on Bone Health
Kelly, R. R., Sidles, S. J., & LaRue, A. C. (2020) · Frontiers in Psychology · doi:10.3389/fpsyg.2020.612366 · Cited by 92
Investigation of the Molecular Role of Brain-Derived Neurotrophic Factor in Alzheimer’s Disease
Girotra, P., Behl, T., Sehgal, A., Singh, S., & BUNGAU, S. G. (2021) · Journal of Molecular Neuroscience · doi:10.1007/s12031-021-01824-8 · Cited by 92
Glial-Neuronal Interactions in Pathogenesis and Treatment of Spinal Cord Injury
Lukáčová, N., Kisucká, A., Bimbová, K., Bačová, M., Ileninová, M., Kuruc, T., & Gálik, J. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222413577 · Cited by 94
Lashley, T., Gami‐Patel, P., Valizadeh, N., Li, A., Révész, T., & Balázs, R. (2014) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12183 · Cited by 92
Self-citationMetabolic Dysfunction in Alzheimer’s Disease: From Basic Neurobiology to Clinical Approaches
Clarke, J. R., Ribeiro, F. C., Frozza, R. L., Felice, F. G. D., & Lourenco, M. V. (2018) · Journal of Alzheimer s Disease · doi:10.3233/jad-179911 · Cited by 93
The Retromer Complex and Sorting Nexins in Neurodegenerative Diseases
Zhang, H., Huang, T. Y., Hong, Y., Yang, W., Zhang, X., Luo, H., Xu, H., & Wang, X. (2018) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2018.00079 · Cited by 92
Bird, T. D. (2015) · Cited by 92
Inflammation in Alzheimer’s Disease and Molecular Genetics: Recent Update
Zhang, Z., Li, Y., Ng, C. T., & Song, Y. (2015) · Archivum Immunologiae et Therapiae Experimentalis · doi:10.1007/s00005-015-0351-0 · Cited by 92
Fracassi, A., Marcatti, M., Tumurbaatar, B., Woltjer, R., Moreno, S., & Taglialatela, G. (2023) · Brain Pathology · doi:10.1111/bpa.13108 · Cited by 92
Loss of tau rescues inflammation-mediated neurodegeneration
Maphis, N., Xu, G., Kokiko-Cochran, O. N., Cardona, A. E., Ransohoff, R. M., Lamb, B. T., & Bhaskar, K. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00196 · Cited by 91
Nasiri, E., Sankowski, R., Dietrich, H., Oikonomidi, A., Huerta, P. T., Popp, J., Al-Abed, Y., & Bacher, M. (2020) · Molecular Medicine · doi:10.1186/s10020-020-00163-5 · Cited by 91
Steele, N. Z. R., Carr, J. S., Bonham, L. W., Geier, E. G., Damotte, V., Miller, Z. A., Desikan, R. S., Boehme, K. L., Mukherjee, S., Crane, P. K., et al. (2017) · PLOS Medicine · doi:10.1371/journal.pmed.1002272 · Cited by 91
Self-citationApolipoprotein E in Alzheimer’s disease: molecular insights and therapeutic opportunities
Belaidi, A. A., Bush, A. I., & Ayton, S. (2025) · Molecular Neurodegeneration · doi:10.1186/s13024-025-00843-y · Cited by 91
Recent Progress in Alzheimer’s Disease Research, Part 1: Pathology
Hane, F. T., Lee, B. Y., & Leonenko, Z. (2017) · Journal of Alzheimer s Disease · doi:10.3233/jad-160882 · Cited by 92
Salech, F., Ponce, D. P., Paula-Lima, A. C., SanMartín, C. D., & Behrens, M. I. (2020) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2020.00255 · Cited by 92
TREM1 facilitates microglial phagocytosis of amyloid beta
Jiang, T., Zhang, Y.-D., Gao, Q., Zhou, J.-S., Zhu, X.-C., Lu, H., Shi, J.-Q., Tan, L., Chen, Q., & Yu, J.-T. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1622-5 · Cited by 91
Kamila, P., Kar, K., Chowdhury, S., Chakraborty, P., Dutta, R., S, S., Singh S, A., & Prajapati, B. G. (2025) · IBRO Neuroscience Reports · doi:10.1016/j.ibneur.2025.05.005 · Cited by 90
Glia in neurodegeneration: Drivers of disease or along for the ride?
Gleichman, A. J., & Carmichael, S. T. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104957 · Cited by 90
Vps35-dependent recycling of Trem2 regulates microglial function
Yin, J., Liu, X., He, Q., Zhou, L., Yuan, Z., & Zhao, S. (2016) · Traffic · doi:10.1111/tra.12451 · Cited by 90
Toll-Like Receptor 4: A Promising Therapeutic Target for Alzheimer’s Disease
Wu, L., Xian, X., Xu, G., Tan, Z., Dong, F., Zhang, M., & Zhang, F. (2022) · Mediators of Inflammation · doi:10.1155/2022/7924199 · Cited by 93
Pelham, C. J., & Agrawal, D. K. (2013) · Expert Review of Clinical Immunology · doi:10.1586/1744666x.2014.866519 · Cited by 90
Reifschneider, A., Robinson, S., van Lengerich, B., Gnörich, J., Logan, T., Heindl, S., Vogt, M. A., Weidinger, E., Riedl, L., Wind, K., et al. (2022) · The EMBO Journal · doi:10.15252/embj.2021109108 · Cited by 89
Nicolas, G., Wallon, D., Charbonnier, C., Quenez, O., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., Coutant, S., Le Guennec, K., Bacq, D., et al. (2016) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.173 · Cited by 89
Carling, G. K., Fan, L., Foxe, N. R., Norman, K., Wong, M. Y., Zhu, D., Corona, C., Razzoli, A., Yu, F., Yarahmady, A., et al. (2024) · Neuron · doi:10.1016/j.neuron.2024.09.006 · Cited by 89
NLRP3 polymorphisms are associated with late-onset Alzheimer's disease in Han Chinese
Tan, M., Yu, J., Jiang, T., Zhu, X., Wang, H.-F., Zhang, W., Wang, Y., Jiang, W., & Tan, L. (2013) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2013.10.002 · Cited by 89
Swanson, M. E. V., Scotter, E. L., Smyth, L. C. D., Murray, H. C., Ryan, B., Turner, C. P., Faull, R. L. M., Dragunow, M., & Curtis, M. A. (2020) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-01047-9 · Cited by 91
Tagliatti, E., Desiato, G., Mancinelli, S., Bizzotto, M., Gagliani, M. C., Faggiani, E., Hernández‐Soto, R., Cugurra, A., Poliseno, P., Miotto, M., et al. (2023) · Immunity · doi:10.1016/j.immuni.2023.12.002 · Cited by 90
Fanlo-Ucar, H., Picón-Pagès, P., Herrera-Fernández, V., ILL‐Raga, G., & Muñoz, F. J. (2024) · Antioxidants · doi:10.3390/antiox13101208 · Cited by 94
Noh, M., Kwon, H. S., Kwon, M., Nahm, M., Jin, H. K., Bae, J., & Kim, S. H. (2025) · Molecular Neurodegeneration · doi:10.1186/s13024-025-00867-4 · Cited by 94
IVIg protects the 3xTg-AD mouse model of Alzheimer’s disease from memory deficit and Aβ pathology
St‐Amour, I., Paré, I., Tremblay, C., Coulombe, K., Bazin, R., & Calon, F. (2014) · Journal of Neuroinflammation · doi:10.1186/1742-2094-11-54 · Cited by 91
Fenoglio, C., Scarpini, E. A., Serpente, M., & Galimberti, D. (2018) · Journal of Alzheimer s Disease · doi:10.3233/jad-170702 · Cited by 89
Phagocytic astrocytes: Emerging from the shadows of microglia
Konishi, H., Koizumi, S., & Kiyama, H. (2022) · Glia · doi:10.1002/glia.24145 · Cited by 88
Claes, C., Daele, J. V. D., Boon, R., Schouteden, S., Colombo, A. V., Monasor, L. S., Fiers, M. W. E. J., Ordovás, L., Nami, F., Bohrmann, B., et al. (2018) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2018.09.006 · Cited by 88
Friend, Foe or Both? Immune Activity in Alzheimer’s Disease
Frost, G. R., Jonas, L. A., & Li, Y. (2019) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2019.00337 · Cited by 88
Promoting Autophagic Clearance: Viable Therapeutic Targets in Alzheimer's Disease
Friedman, L. G., Qureshi, Y. H., & Yu, W. H. (2014) · Neurotherapeutics · doi:10.1007/s13311-014-0320-z · Cited by 89
Magistri, M., Velmeshev, D., Makhmutova, M., Patel, P., Sartor, G. C., Volmar, C., Wahlestedt, C., & Faghihi, M. A. (2016) · Current Alzheimer Research · doi:10.2174/1567205013666160427101832 · Cited by 88
A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature
Dardiotis, E., Siokas, V., Pantazi, E., Dardioti, M., Rikos, D., Xiromerisiou, G., Markou, A., Papadimitriou, D. A., Speletas, M. G., & Hadjigeorgiou, G. M. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.01.015 · Cited by 88
TREM2/DAP12 Complex Regulates Inflammatory Responses in Microglia via the JNK Signaling Pathway
Zhong, L., Zhang, Z.-L., Li, X., Liao, C., Mou, P., Wang, T., Wang, Z., Wang, Z., Wei, M., Xu, H., et al. (2017) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2017.00204 · Cited by 92
Microglia communication: parallels between aging and Alzheimer's disease
Udeochu, J. C., Shea, J. M., & Villeda, S. A. (2016) · Clinical and Experimental Neuroimmunology · doi:10.1111/cen3.12307 · Cited by 87
Rosén, C., Andersson, C.-H., Andréasson, U., Molinuevo, J. L., Bjerke, M., Rami, L., Lladó, A., Blennow, K., & Zetterberg, H. (2014) · Dementia and Geriatric Cognitive Disorders Extra · doi:10.1159/000362164 · Cited by 88
Complement C7is a novel risk gene for Alzheimer's disease in Han Chinese
Zhang, D., Fan, Y., Xu, M., Wang, G., Wang, D., Li, J., Kong, L., Zhou, H., Luo, R., Bi, R., et al. (2018) · National Science Review · doi:10.1093/nsr/nwy127 · Cited by 87
Dynamic changes of CSF sTREM2 in preclinical Alzheimer’s disease: the CABLE study
Ma, L., Tan, L., Bi, Y., Shen, X., Xu, W., Ma, Y., Li, H., Dong, Q., & Yu, J. (2020) · Molecular Neurodegeneration · doi:10.1186/s13024-020-00374-8 · Cited by 89
Oxidative stress–mediated neuroinflammation in Alzheimer’s disease
Firdous, S. M., Khan, S. A., & Maity, A. (2024) · Naunyn-Schmiedeberg s Archives of Pharmacology · doi:10.1007/s00210-024-03188-3 · Cited by 90
Step by step: towards a better understanding of the genetic architecture of Alzheimer’s disease
Lambert, J.-C., Ramirez, A., Grenier-Boley, B., & Bellenguez, C. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02076-1 · Cited by 87
Self-citationHuman CNS immune senescence and neurodegeneration
Streit, W. J., & Xue, Q.-S. (2014) · Current Opinion in Immunology · doi:10.1016/j.coi.2014.05.005 · Cited by 86
Crowdsourced estimation of cognitive decline and resilience in Alzheimer's disease
Allen, G. I., Amoroso, N., Anghel, C. V., Balagurusamy, V. S. K., Bare, J. C., Beaton, D., Bellotti, R., Bennett, D. A., Boehme, K. L., Boutros, P. C., et al. (2016) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2016.02.006 · Cited by 87
Self-citationSalvadores, N., Moreno‐González, I., Gamez, N., Quiroz, G., Vegas‐Gomez, L., Escandón, M., Jiménez, S., Vitórica, J., Gutiérrez, A., Soto, C. A., et al. (2022) · Acta Neuropathologica Communications · doi:10.1186/s40478-022-01332-9 · Cited by 87
Tosun, D., Hausle, Z., Iwaki, H., Thropp, P., Lamoureux, J., Lee, E. B., MacLeod, K., McEvoy, S., Nalls, M. A., Perrin, R. J., et al. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.13858 · Cited by 86
Self-citationGenomics implicates adaptive and innate immunity in Alzheimer’s and Parkinson’s diseases
Gagliano, S. A., Pouget, J. G., Hardy, J., Knight, J., Barnes, M. R., Ryten, M., & Weale, M. E. (2016) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.369 · Cited by 85
Self-citationVarley, J. A., Brooks, D. J., & Edison, P. (2014) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2014.08.105 · Cited by 85
Hopperton, K. E., Trépanier, M., Giuliano, V., & Bazinet, R. P. (2016) · Journal of Neuroinflammation · doi:10.1186/s12974-016-0721-5 · Cited by 85
Functional insights from biophysical study of TREM2 interactions with apoE and Aβ 1‐42
Kober, D. L., Stuchell‐Brereton, M. D., Kluender, C. E., Dean, H. B., Strickland, M. R., Steinberg, D. F., Nelson, S. S., Baban, B. A., Holtzman, D. M., Frieden, C., et al. (2020) · Alzheimer s & Dementia · doi:10.1002/alz.12194 · Cited by 86
Pereira, J. B., Janelidze, S., Strandberg, O. T., Whelan, C. D., Zetterberg, H., Blennow, K., Palmqvist, S., Stomrud, E., Mattsson, N., & Hansson, O. (2022) · Nature Aging · doi:10.1038/s43587-022-00310-z · Cited by 85
The Evolving Biology of Microglia in Alzheimer's Disease
Malm, T. M., Jay, T. R., & Landreth, G. E. (2015) · Neurotherapeutics · doi:10.1007/s13311-014-0316-8 · Cited by 85
Li, Z., Farias, F. H. G., Dube, U., Del-Aguila, J. L., Mihindukulasuriya, K. A., Fernandez, M. V., Ibanez, L., Budde, J. P., Wang, F., Lake, A. M., et al. (2020) · Acta Neuropathologica · doi:10.1007/s00401-019-02066-0 · Cited by 85
Self-citationSung, Y. J., Yang, C., Norton, J., Johnson, M., Fagan, A., Bateman, R. J., Perrin, R. J., Morris, J. C., Farlow, M. R., Chhatwal, J. P., et al. (2023) · Science Translational Medicine · doi:10.1126/scitranslmed.abq5923 · Cited by 84
Self-citationIsoform- and cell-state-specific lipidation of ApoE in astrocytes
Lindner, K., Beckenbauer, K., van Ek, L. C., Titeca, K., de Leeuw, S. M., Awwad, K., Hanke, F., Korepanova, A. V., Rybin, V., van der Kam, E. L., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.110435 · Cited by 84
Hunting human disease genes: lessons from the past, challenges for the future
Brunham, L. R., & Hayden, M. R. (2013) · Human Genetics · doi:10.1007/s00439-013-1286-3 · Cited by 84
Ozaki, Y., Yoshino, Y., Yamazaki, K., Sao, T., Mori, Y., Ochi, S., Yoshida, T., Mori, T., Iga, J., & Ueno, S. (2017) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2017.04.003 · Cited by 84
Could Alzheimer’s Disease Originate in the Periphery and If So How So?
Morris, G., Berk, M., Maes, M. H. J., & Puri, B. K. (2018) · Molecular Neurobiology · doi:10.1007/s12035-018-1092-y · Cited by 86
Polygenic Analysis of Late-Onset Alzheimer’s Disease from Mainland China
Jiao, B., Liu, X., Zhou, L., Wang, M. H., Zhou, Y., Xiao, T., Zhang, W., Sun, R., Waye, M. M. Y., Tang, B., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0144898 · Cited by 84
Initiative, F. T. A. D. N., Ridge, P. G., Karch, C. M., Hsu, S., Arano, I., Teerlink, C. C., Ebbert, M. T. W., Gonzalez Murcia, J. D., Farnham, J. M., Damato, A. R., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0486-1 · Cited by 83
Self-citationThe Transcriptional Landscape of Microglial Genes in Aging and Neurodegenerative Disease
Bonham, L. W., Sirkis, D. W., & Yokoyama, J. S. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.01170 · Cited by 83
Wang, H., Li, Y., Ryder, J. W., Hole, J. T., Ebert, P. J., Airey, D. C., Qian, H.-R., Logsdon, B., Fisher, A., Ahmed, Z., et al. (2018) · Molecular Neurodegeneration · doi:10.1186/s13024-018-0296-y · Cited by 83
Functional alterations of myeloid cells during the course of Alzheimer’s disease
Thome, A. D., Faridar, A., Beers, D. R., Thonhoff, J. R., Zhao, W., Wen, S., Pascual, B., Masdeu, J. C., & Appel, S. H. (2018) · Molecular Neurodegeneration · doi:10.1186/s13024-018-0293-1 · Cited by 83
Endo‐Umeda, K., Kim, E., Thomas, D. G., Liu, W., Dou, H., Yalçınkaya, M., Abramowicz, S., Xiao, T., Antonson, P., Gustafsson, J.-Α., et al. (2022) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.122.317583 · Cited by 83
TREM2 and sTREM2 in Alzheimer’s disease: from mechanisms to therapies
Zhang, L., Xiang, X., Li, Y., Bu, G., & Chen, X. (2025) · Molecular Neurodegeneration · doi:10.1186/s13024-025-00834-z · Cited by 87
Biomarkers in Amyloid-β Immunotherapy Trials in Alzheimer’s Disease
Blennow, K., Hampel, H. J., & Zetterberg, H. (2013) · Neuropsychopharmacology · doi:10.1038/npp.2013.154 · Cited by 83
TREM2‐dependent effects on microglia in Alzheimer's disease
Zhou, Y., Ulland, T. K., & Colonna, M. (2018) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2018.00202 · Cited by 82
ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer’s disease
Medway, C. W., Abdul-Hay, S., Mims, T., Ma, L., Bisceglio, G., Zou, F., Pankratz, S., Sando, S. B., Aasly, J. O., Barcikowska, M., et al. (2014) · Molecular Neurodegeneration · doi:10.1186/1750-1326-9-11 · Cited by 82
Self-citationMolecular Basis of Etiological Implications in Alzheimer’s Disease: Focus on Neuroinflammation
Niranjan, R. (2013) · Molecular Neurobiology · doi:10.1007/s12035-013-8428-4 · Cited by 83
Sheng, L., Chen, M., Cai, K., Song, Y., Yu, D., Zhang, H., & Xu, G. (2019) · The FASEB Journal · doi:10.1096/fj.201900527r · Cited by 82
Genetic Markers of Alzheimer’s Disease
Perković, M. N., & Pivac, N. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-32-9721-0_3 · Cited by 82
Apolipoprotein E4 and meningeal lymphatics in Alzheimer disease: a conceptual framework
Mentis, A. A., Dardiotis, E., & Chrousos, G. P. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-0731-7 · Cited by 83
Clark, L. F., & Kodadek, T. J. (2016) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.6b00042 · Cited by 83
Cao, J., Zhong, M. B., Toro, C. A., Zhang, L., & Cai, D. (2019) · Neuroscience Letters · doi:10.1016/j.neulet.2019.03.016 · Cited by 82
Lista, S., Imbimbo, B. P., Grasso, M., Fidilio, A., Emanuele, E., Minoretti, P., López-Ortiz, S., Martín-Hernández, J., Gabelle, A., Caruso, G., et al. (2024) · Journal of Neuroinflammation · doi:10.1186/s12974-024-03163-y · Cited by 81
APOE ε4 associates with microglial activation independently of Aβ plaques and tau tangles
Ferrari-Souza, J. P., Lussier, F. Z., Leffa, D. T., Therriault, J., Tissot, C., Bellaver, B., Ferreira, P. C. L., Malpetti, M., Wang, Y.-T., Povala, G., et al. (2023) · Science Advances · doi:10.1126/sciadv.ade1474 · Cited by 81
Metadata
- Authors
- Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., Hazrati, L., Collinge, J., Pocock, J., Lashley, T., Williams, J., Lambert, J.-C., Amouyel, P., Goate, A., Rademakers, R., Morgan, K., Powell, J., St. George-Hyslop, P., Singleton, A., & Hardy, J.
- Affiliations
- UCL Queen Square Institute of Neurology (GB)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2013-01-10
- Volume
- 368
- Issue
- 2
- Pages
- 117-127
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC3631573
- OpenAlex
- W2124490243
- Cited by
- 3,020
- References
- 33
- Citations by year
- 2026: 165 · 2025: 204 · 2024: 238 · 2023: 245 · 2022: 265 · 2021: 250 · 2020: 269 · 2019: 234 · 2018: 251 · 2017: 203 · 2016: 194 · 2015: 196 · 2014: 160 · 2013: 137
- FWCI
- 106.95
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Digital Commons@Becker (Washington University School of Medicine) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Universitätsbibliographie, Universität Duisburg-Essen (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship@McGill (McGill) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Bristol Research (University of Bristol) (submittedVersion)
- Funders
- U.S. Department of Health and Human Services
- University of Dundee
- Wellcome Trust (WT089698, 089703, 081864, 089698, 095317)
- Alzheimer Society
- National Institute for Health and Care Research (NF-SI-0512-10033)
- University College London
- Fondation pour la Recherche sur Alzheimer
- National Institutes of Health (5p30ns069329-02)
- Canadian Institutes of Health Research
- Medical Research Council (MC_G1000735, MR/K013041/1)
- National Institute on Aging (R01AG042611, R01AG018023, U01AG006786, R01-AG18023, R01AG041797, P50AG008702, Z01AG000950, P50AG005681, U24AG056270, U24AG021886, P50AG016574)
- National Institute of Neurological Disorders and Stroke (P30-NS069329, 5P30 NS069329-02)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- TREM2, Alzheimer's disease, loss-of-function mutations, rare variants, genetic risk, mouse models of Alzheimer's disease, early-onset dementia, myeloid cells
- MeSH terms
- Aged, Alzheimer Disease, Animals, Brain, Genotype, Heterozygote, Humans, Membrane Glycoproteins, Mice, Inbred A, Mutation, Receptors, Immunologic, Risk Factors, RNA, Messenger, Genetic Variation, Sequence Analysis, DNA, Mice, Genome-Wide Association Study, Exome, Genotyping Techniques
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
