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54/100

✓ Peer-reviewed alzhub usefulness score 54 out of 100. Genetics

Topic: Amyloid, tau and blood-test diagnosis

) within the first intron of SCN8A on chromosome 12 (Figure 1), overlapping a significant region in the previous admixture mapping analysis. eHiCA revealed more and stronger interactions between rs4761988 and SLC4A8, SCN8A and FIGNL2 in EU compared to AF genome (Figure 2), consistent with the admixture mapping result. We also replicated eight known AD loci (ABCA7, APOE, CLU, FERMT2, GRN, RASGEF1C, SORL1, TREM2) primarily identified in EU studies, likely reflecting the high EU background of the PR population. Meta-analysis in the PR population identified a novel genome-wide significant locus. eHiCA identified several potential target genes at this novel locus, including SCN8A. Differential chromatin interactions between EU and AF ancestries may contribute to the significant admixture mapping signal.

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APA 7th

Akgün, B., Xu, W., Hamilton‐Nelson, K. L., Nasciben, L. B., Scott, K. M., Adams, L. D., et al. (2025). Significant association between SCN8A and Alzheimer disease in Puerto Ricans. Alzheimer s & Dementia. https://doi.org/10.1002/alz70855_098248

Vancouver

Akgün B, Xu W, Hamilton‐Nelson KL, Nasciben LB, Scott KM, Adams LD, et al. Significant association between SCN8A and Alzheimer disease in Puerto Ricans. Alzheimer s & Dementia. 2025. doi:10.1002/alz70855_098248. PMID: 41434771.

BibTeX

@article{akgun2025-41434771,
  author  = {Akgün, Bilçağ and Xu, Wanying and Hamilton‐Nelson, Kara L. and Nasciben, Luciana Bertholim and Scott, Kyle M. and Adams, Larry Deon and Sanchez, Jose J. and Valladares, Glenies S and others},
  title   = {{Significant association between SCN8A and Alzheimer disease in Puerto Ricans}},
  journal = {Alzheimer s \& Dementia},
  year    = {2025},
  doi     = {10.1002/alz70855_098248},
  pmid    = {41434771},
  url     = {https://doi.org/10.1002/alz70855_098248}
}

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Key findings

) within the first intron of SCN8A on chromosome 12 (Figure 1), overlapping a significant region in the previous admixture mapping analysis. eHiCA revealed more and stronger interactions between rs4761988 and SLC4A8, SCN8A and FIGNL2 in EU compared to AF genome (Figure 2), consistent with the admixture mapping result.
We also replicated eight known AD loci (ABCA7, APOE, CLU, FERMT2, GRN, RASGEF1C, SORL1, TREM2) primarily identified in EU studies, likely reflecting the high EU background of the PR population.
Meta-analysis in the PR population identified a novel genome-wide significant locus. eHiCA identified several potential target genes at this novel locus, including SCN8A.
Differential chromatin interactions between EU and AF ancestries may contribute to the significant admixture mapping signal.

Why it matters

This genetic study in Puerto Ricans found a significant association between SCN8A and Alzheimer disease and replicated eight known Alzheimer loci. It identifies a possible new genetic factor but does not provide a treatment or cure.

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Study details

Study designmeta-analysis
Participants867
Evidence strengthHigh

How this study scored 54/100

Published in a peer-reviewed journal, and it is a meta-analysis pooling many studies. Scored zero for effect reported because the record does not state it.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (Alzheimer s & Dementia)
Journal's citation record	2 / 4	Alzheimer s & Dementia: journal h-index 228 (OpenAlex, 2026-10-29)
Study design	12 / 12	A meta-analysis pooling many studies
Strength of evidence	5 / 5	Rated “high” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	4 / 5	2025 — within 3 year(s) of the newest study here
Sample size	2 / 4	867 participants
Effect reported	0 / 3	No effect size reported — scores zero (not stated in the record — scored 0)
Studied in people	3 / 3	Studied in people (participant count stated)
Randomised / blinded	0 / 2	A review of other studies — randomisation is not credited here
Times cited	0 / 7	Cited 0 times (OpenAlex, 2026-10-10)
Citations per year	0 / 5	0.0 citations a year over 3 year(s) since 2025
Impact for its field and year	0 / 6	Cited 0.0× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	0 / 6	No other study in this library cites it
Still being cited	0 / 4	Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	0 / 4	Last-listed author Margaret Pericak‐Vance: h-index 3 (OpenAlex, whole career)
Institution's track record	2 / 3	Columbia University: institution h-index 1,824 (OpenAlex)
Multi-centre collaboration	3 / 3	OpenAlex lists 10 institution(s) in 3 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 41434771)
Free to read	2 / 2	Free to read
Total	54 / 100	—

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