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ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans
Open accessAbstract
BACKGROUND: Rare coding variants ABI3_rs616338-T and PLCG2_rs72824905-G were identified as risk or protective factors, respectively, for Alzheimer's disease (AD). METHODS: We tested the association of these variants with five neurodegenerative diseases in Caucasian case-control cohorts: 2742 AD, 231 progressive supranuclear palsy (PSP), 838 Parkinson's disease (PD), 306 dementia with Lewy bodies (DLB) and 150 multiple system atrophy (MSA) vs. 3351 controls; and in an African-American AD case-control cohort (181 AD, 331 controls). 1479 AD and 1491 controls were non-overlapping with a prior report. RESULTS: Using Fisher's exact test, there was significant association of both ABI3_rs616338-T (OR = 1.41, p = 0.044) and PLCG2_rs72824905-G (OR = 0.56, p = 0.008) with AD. These OR estimates were maintained in the non-overlapping replication AD-control analysis, albeit at reduced significance (ABI3_rs616338-T OR = 1.44, p = 0.12; PLCG2_rs72824905-G OR = 0.66, p = 0.19). None of the other cohorts showed significant associations that were concordant with those for AD, although the DLB cohort had suggestive findings (Fisher's test: ABI3_rs616338-T OR = 1.79, p = 0.097; PLCG2_rs72824905-G OR = 0.32, p = 0.124). PLCG2_rs72824905-G showed suggestive association with pathologically-confirmed MSA (OR = 2.39, p = 0.050) and PSP (OR = 1.97, p = 0.061), although in the opposite direction of that for AD. We assessed RNA sequencing data from 238 temporal cortex (TCX) and 224 cerebellum (CER) samples from AD, PSP and control patients and identified co-expression networks, enriched in microglial genes and immune response GO terms, and which harbor PLCG2 and/or ABI3. These networks had higher expression in AD, but not in PSP TCX, compared to controls. This expression association did not survive adjustment for brain cell type population changes. CONCLUSIONS: We validated the associations previously reported with ABI3_rs616338-T and PLCG2_rs72824905-G in a Caucasian AD case-control cohort, and observed a similar direction of effect in DLB. Conversely, PLCG2_rs72824905-G showed suggestive associations with PSP and MSA in the opposite direction. We identified microglial gene-enriched co-expression networks with significantly higher levels in AD TCX, but not in PSP, a primary tauopathy. This co-expression network association appears to be driven by microglial cell population changes in a brain region affected by AD pathology. Although these findings require replication in larger cohorts, they suggest distinct effects of the microglial genes, ABI3 and PLCG2 in neurodegenerative diseases that harbor significant vs. low/no amyloid ß pathology.
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“Similar to newly identified other AD risk variants (e.g., TREM2, SPI1, and MS4A6A), ABI3 is highly expressed in microglia (8, 9, 11).”
From Deletion of Abi3 gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
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
“Subsequently, this association was replicated by independent groups (9, 10).”
From Deletion of Abi3 gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
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.
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“Consistent with its microglia specific gene expression pattern (8, 9, 11), we found that deletion of Abi3 locus altered the expression of genes regulating microglial phagocytosis and immune response.”
From Deletion of Abi3 gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
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.
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“The missense variant P522R in PLCG2 (rs72824905-G, P = 5.38 × 10−10, OR = 0.68) was shown to be protective, not only in the context of AD4,5, but also in other neurodegenerative diseases such as frontotemporal dementia and dementia with Lewy bodies6.”
From PLCγ2 regulates TREM2 signalling and integrin-mediated adhesion and migration of human iPSC-derived macrophages (2021) · cites this paper as [5]
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 P522R variant in PLCG2 has been shown to confer protection for AD and to result in a subtle increase in enzymatic activity.”
From PLCγ2 regulates TREM2 signalling and integrin-mediated adhesion and migration of human iPSC-derived macrophages (2021) · cites this paper as [5]
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“Genetic studies have identified a protective P522R variant in the PLCG2 gene (PLCG2-P522R; rs72824905 C > G), which decreases the risk of Alzheimer’s disease (AD) and increases longevity [1–4].”
From Protective PLCG2 variants associate with a delayed onset of Alzheimer’s disease among heterozygous APOE ε4 carriers (2026) · cites this paper as [2]
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.
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“Human studies confirmed the relevance of the R522 variant with other dementias and associated it with increased longevity in centenarian cohorts (Bellenguez et al. 2022; Conway et al. 2018; van der Lee et al. 2019).”
From Alzheimer's Protection by PLCγ2 Compacts Plaques, Redistributes Microglia, and Protects Synapses in App NL ‐G‐F Mice (2026) · cites this paper as Conway et al. 2018
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“The initial genetic results were replicated by various independent cohorts (160, 161, 162).”
From The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration (2021) · cites this paper as [160]
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“The S209F variant of Abelson Interactor Protein 3 (ABI3) increases risk for Alzheimer’s disease (AD)”
From Deletion of Abi3/Gngt2 influences age-progressive amyloid β and tau pathologies in distinctive ways (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.
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“Recent reports have confirmed ABI3 as an AD risk gene [6–8].”
From Deletion of Abi3/Gngt2 influences age-progressive amyloid β and tau pathologies in distinctive ways (2022) · cites this paper as [7]
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“Results from RNA sequencing (RNA-seq) of human postmortem brain tissue further reinforce the importance of microglial and inflammatory mechanisms in AD pathogenesis, among other pathways (Allen et al., 2018; Conway et al., 2018; McKenzie et al., 2017; Patrick et al., 2017; Wang et al., 2016, 2019; Zhang et al., 2013).”
From Meta-Analysis of the Alzheimer’s Disease Human Brain Transcriptome and Functional Dissection in Mouse Models (2020) · cites this paper as Conway et al., 2018
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“This result suggests that many human brain gene expression changes associated with AD, including neuronal- and microglial-enriched modules reported in other studies (Conway et al., 2018; Mostafavi et al., 2018; Zhang et al., 2013), may represent common transcriptional programs activated by the aging process itself.”
From Meta-Analysis of the Alzheimer’s Disease Human Brain Transcriptome and Functional Dissection in Mouse Models (2020) · cites this paper as Conway et al., 2018
The cited source says what the claim attributes to it.
In the citing paper
“Human genetics studies of Alzheimer’s disease (AD) have identified the ABI3 gene as a candidate risk gene for AD.”
From The effect of Abi3 locus deletion on the progression of Alzheimer’s disease-related pathologies (2023) · cites this paper as [15]
The cited source says what the claim attributes to it.
In the citing paper
“For example, a rare coding missense variant in the ABI3 gene is associated with an increased risk of AD (8, 9).”
From Deletion of Abi3 gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
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In the citing paper
“Given our functional data shown in this study and its significant genetic association with AD (8–10), ABI3 and its downstream pathways may be promising therapeutic targets.”
From Deletion of Abi3 gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis (2021) · cites this paper as [9]
The cited source says what the claim attributes to it.
In the citing paper
“Although the ABI3 S209F variant is a recognized genetic risk for Alzheimer's disease (AD), its pathogenic mechanism remains elusive.”
From Aberrant phase separation from a rare ABI3 mutation drives microglial dysfunction and Alzheimer's risk (2026) · cites this paper as [16]
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“Human genetics studies of AD identified a coding variant of ABI3, p.Ser209Phe (rs616338), associated with late-onset AD158–161 (Table 2y).”
From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [159]
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In the citing paper
“other rare PLCG2 variants, such as M28L (rs61749044) that confers a modest increased risk of AD (OR ≈ 1.16) [1, 4, 7–13]”
From PLCγ2 deficiency compromises systemic immune tolerance and erodes myelin homeostasis while enhancing oxidative metabolism in the mouse brain (2026) · cites this paper as [7]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“Human studies confirmed the relevance of the R522 variant with other dementias and associated it with increased longevity in centenarian cohorts (Bellenguez et al. 2022; Conway et al. 2018; van der Lee et al. 2019).”
From Alzheimer's Protection by PLCγ2 Compacts Plaques, Redistributes Microglia, and Protects Synapses in App NL ‐G‐F Mice (2026) · cites this paper as Conway et al. 2018
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Metadata
- Authors
- Conway, O. J., Carrasquillo, M. M., Wang, X., Bredenberg, J. M., Reddy, J. S., Strickland, S. L., Younkin, C. S., Burgess, J. D., Allen, M., Lincoln, S. J., Nguyen, T., Malphrus, K. G., Soto, A. I., Walton, R. L., Boeve, B. F., Petersen, R. C., Lucas, J. A., Ferman, T. J., Cheshire, W. P., van Gerpen, J. A., Uitti, R. J., Wszolek, Z. K., Ross, O. A., Dickson, D. W., Graff-Radford, N. R., & Ertekin-Taner, N.
- Affiliations
- Mayo Clinic in Florida (US)
- Mayo Clinic (US)
- ORCID
- Venue
- Molecular Neurodegeneration
- Published
- 2018-10-11
- Volume
- 13
- Issue
- 1
- Pages
- 53-53
- ISSN
- 1750-1326 (ISSN-L)
- PMC
- PMC6190665
- OpenAlex
- W2896393831
- Cited by
- 112
- References
- 57
- Citations by year
- 2026: 8 · 2025: 8 · 2024: 13 · 2023: 12 · 2022: 28 · 2021: 17 · 2020: 20 · 2019: 4 · 2018: 2
- FWCI
- 7.39
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Molecular Neurodegeneration (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Institute on Aging (RF AG051504, U01 AG046139)
- National Institute of Neurological Disorders and Stroke (R01 NS080820, R01 NS078086)
- 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
- PLCγ2, missense mutations, Alzheimer's disease, neurodegenerative diseases, progressive supranuclear palsy, Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, genetic risk factors, African Americans, temporal cortex, cerebellum, co-expression network, gene regulatory networks, transcription factor binding sites, protein-protein interaction network
- MeSH terms
- Aged, Aged, 80 and over, Black or African American, Brain, Female, Humans, Male, Risk Factors, Microglia, Neurodegenerative Diseases, Mutation, Missense, White People, Adaptor Proteins, Signal Transducing, Phospholipase C gamma
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