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62/100

✓ Peer-reviewed alzhub usefulness score 62 out of 100. Genetics

Topic: Amyloid, tau and blood-test diagnosis

Plain-language summary

Objective Recent genome-wide association studies (GWAS) of late-onset Alzheimer disease (LOAD) identified 9 novel risk loci. Discovery of functional variants within genes at these loci is required to confirm their role in Alzheimer disease (AD). Single nucleotide polymorphisms that influence gene expression (eSNPs) constitute an important class of functional variants. We therefore investigated the influence of the novel LOAD risk loci on human brain gene expression. Methods We measured gene expression levels in the cerebellum and temporal cortex of autopsied AD subjects and those with other brain pathologies (∼400 total subjects). To determine whether any of the novel LOAD risk variants are eSNPs, we tested their cis-association with expression of 6 nearby LOAD candidate genes detectable in human brain (ABCA7, BIN1, CLU, MS4A4A, MS4A6A, PICALM) and an additional 13 genes ±100 kb of these SNPs. To identify additional eSNPs that influence brain gene expression levels of the novel candidate LOAD genes, we identified SNPs ±100 kb of their location and tested for cis-associations. Results CLU rs11136000 (p = 7.81 × 10(-4)) and MS4A4A rs2304933/rs2304935 (p = 1.48 × 10(-4)-1.86 × 10(-4)) significantly influence temporal cortex expression levels of these genes. The LOAD-protective CLU and risky MS4A4A locus alleles associate with higher brain levels of these genes. There are other cis-variants that significantly influence brain expression of CLU and ABCA7 (p = 4.01 × 10(-5)-9.09 × 10(-9)), some of which also associate with AD risk (p = 2.64 × 10(-2)-6.25 × 10(-5)). Conclusions CLU and MS4A4A eSNPs may at least partly explain the LOAD risk association at these loci. CLU and ABCA7 may harbor additional strong eSNPs. These results have implications in the search for functional variants at the novel LOAD risk loci.

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APA 7th

Allen, M., Zou, F., Chai, H. S., Younkin, C. S., Crook, J., Pankratz, V. S., et al. (2012). Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology. https://doi.org/10.1212/wnl.0b013e3182605801

Vancouver

Allen M, Zou F, Chai HS, Younkin CS, Crook J, Pankratz VS, et al. Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology. 2012. doi:10.1212/wnl.0b013e3182605801. PMID: 22722634.

BibTeX

@article{allen2012-22722634,
  author  = {Allen, M. and Zou, F. and Chai, H. S. and Younkin, C. S. and Crook, J. and Pankratz, V. S. and Carrasquillo, M. M. and Rowley, C. N. and others},
  title   = {{Novel late-onset Alzheimer disease loci variants associate with brain gene expression}},
  journal = {Neurology},
  year    = {2012},
  doi     = {10.1212/wnl.0b013e3182605801},
  pmid    = {22722634},
  url     = {https://doi.org/10.1212/wnl.0b013e3182605801}
}

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How to read this study

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What the evidence grade means here

This page is graded low. alzhub.org assigns the grade automatically from keywords in the abstract, not from reading the paper. Low means the abstract matched neither pattern. It is the default label, and it does not mean the work is poor; many sound lab and imaging papers land here. It can add at most 5 of the 100 points in the study score, and it is a label about design, not a verdict on whether the findings are true.

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Key findings

Results CLU rs11136000 (p = 7.81 × 10(-4)) and MS4A4A rs2304933/rs2304935 (p = 1.48 × 10(-4)-1.86 × 10(-4)) significantly influence temporal cortex expression levels of these genes.
There are other cis-variants that significantly influence brain expression of CLU and ABCA7 (p = 4.01 × 10(-5)-9.09 × 10(-9)), some of which also associate with AD risk (p = 2.64 × 10(-2)-6.25 × 10(-5)).
These results have implications in the search for functional variants at the novel LOAD risk loci.

Why it matters

This study found that certain variants at the CLU and MS4A4A risk loci influence the expression levels of those genes in the temporal cortex of the brain. It supports the idea that some Alzheimer's risk variants work by changing how much nearby genes are turned on or off.

New to this subject? Start with our plain-English guide: Genetics →

Study details

Evidence strengthLow

How this study scored 62/100

Published in a leading specialty journal, and it is a meta-analysis pooling many studies. Scored zero for sample size, effect reported and studied in people because the record does not state it.

Component	Points	Why
Journal tier	9 / 10	Tier 2 — leading specialty journal (Neurology)
Journal's citation record	4 / 4	Neurology: journal h-index 525 (OpenAlex, 2026-10-29)
Study design	12 / 12	A meta-analysis pooling many studies (from PubMed type “Meta-Analysis”)
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	1 / 5	2012 — within 20 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)
Randomized / blinded	0 / 2	A review of other studies — randomization is not credited here
Times cited	5 / 7	Cited 165 times (OpenAlex, 2026-10-10)
Citations per year	3 / 5	10.3 citations a year over 16 year(s) since 2012
Impact for its field and year	4 / 6	Cited 9.3× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	3 / 6	Cited by 12 other studies in this library
Still being cited	1 / 4	Cited 11 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	3 / 4	Last-listed author Nilüfer Ertekin‐Taner: h-index 66 (OpenAlex, whole career)
Institution's track record	2 / 3	Columbia University: institution h-index 1,824 (OpenAlex)
Multicenter collaboration	2 / 3	OpenAlex lists 5 institution(s) in 1 country
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 22722634)
Free to read	0 / 2	Behind a paywall — scores zero
Total	62 / 100	—

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