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47/100

✓ Peer-reviewed alzhub usefulness score 47 out of 100. TREM2 and immune genetics

Topic: Brain proteins, microglia and lab models

Background Microglia-specific genetic variants are enriched in several neurodegenerative diseases, including Alzheimer's disease (AD), implicating a central role for alterations of the innate immune system in the disease etiology. A rare coding variant in the PLCG2 gene (rs72824905, p.P522R) expressed in myeloid lineage cells was recently identified and shown to reduce the risk for AD. Methods To assess the role of the protective variant in the context of immune cell functions, we generated a Plcγ2-P522R knock-in (KI) mouse model using CRISPR/Cas9 gene editing.

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APA 7th

Takalo, M., Wittrahm, R., Wefers, B., Parhizkar, S., Jokivarsi, K., Kuulasmaa, T., et al. (2020). The Alzheimer's disease-associated protective Plcγ2-P522R variant promotes immune functions. Molecular neurodegeneration. https://doi.org/10.1186/s13024-020-00402-7

Vancouver

Takalo M, Wittrahm R, Wefers B, Parhizkar S, Jokivarsi K, Kuulasmaa T, et al. The Alzheimer's disease-associated protective Plcγ2-P522R variant promotes immune functions. Molecular neurodegeneration. 2020. doi:10.1186/s13024-020-00402-7. PMID: 32917267.

BibTeX

@article{takalo2020-32917267,
  author  = {Takalo, M. and Wittrahm, R. and Wefers, B. and Parhizkar, S. and Jokivarsi, K. and Kuulasmaa, T. and Mäkinen, P. and Martiskainen, H. and others},
  title   = {{The Alzheimer's disease-associated protective Plcγ2-P522R variant promotes immune functions}},
  journal = {Molecular neurodegeneration},
  year    = {2020},
  doi     = {10.1186/s13024-020-00402-7},
  pmid    = {32917267},
  url     = {https://doi.org/10.1186/s13024-020-00402-7}
}

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Key findings

A rare coding variant in the PLCG2 gene (rs72824905, p.P522R) expressed in myeloid lineage cells was recently identified and shown to reduce the risk for AD.
Methods To assess the role of the protective variant in the context of immune cell functions, we generated a Plcγ2-P522R knock-in (KI) mouse model using CRISPR/Cas9 gene editing.
Results Functional analyses of macrophages derived from homozygous KI mice and wild type (WT) littermates revealed that the P522R variant potentiates the primary function of Plcγ2 as a Pip2-metabolizing enzyme.
This was associated with improved survival and increased acute inflammatory response of the KI macrophages.

Why it matters

In mice carrying a protective PLCG2 variant linked to lower Alzheimer's risk, the variant strengthened some immune cell functions. This is early animal work on immune function and does not show that any treatment prevents or cures Alzheimer's disease in people.

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Study details

Evidence strengthLow

How this study scored 47/100

Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (Molecular neurodegeneration)
Journal's citation record	2 / 4	Molecular Neurodegeneration: journal h-index 164 (OpenAlex, 2026-10-29)
Study design	0 / 12	No study design recorded — scores zero, not guessed (not stated in the record — scored 0)
Strength of evidence	1 / 5	Rated “low” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	2 / 5	2020 — within 10 year(s) of the newest study here
Sample size	0 / 4	Participant count not stated — scores zero (not stated in the record — scored 0)
Effect reported	0 / 3	No effect size reported — scores zero (not stated in the record — scored 0)
Studied in people	0 / 3	Not stated whether this was studied in people — scores zero (not stated in the record — scored 0)
Randomised / blinded	0 / 2	No randomisation or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	4 / 7	Cited 84 times (OpenAlex, 2026-10-10)
Citations per year	3 / 5	10.5 citations a year over 8 year(s) since 2020
Impact for its field and year	3 / 6	Cited 4.0× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	2 / 6	Cited by 8 other studies in this library
Still being cited	2 / 4	Cited 35 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	4 / 4	Last-listed author Christian Haass: h-index 139 (OpenAlex, whole career)
Institution's track record	1 / 3	Ludwig-Maximilians-Universität München: institution h-index 1,224 (OpenAlex)
Multi-centre collaboration	2 / 3	OpenAlex lists 7 institution(s) in 2 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 32917267)
Free to read	2 / 2	Free to read
Total	47 / 100	—

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