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49/100

✓ Peer-reviewed alzhub usefulness score 49 out of 100. Genetics

Topic: Amyloid, tau and blood-test diagnosis

Plain-language summary

The epsilon4 allele of APOE is a well-characterized genetic risk factor for late-onset Alzheimer disease (LOAD). Nevertheless, using high-density single nucleotide polymorphisms (SNPs), there have only been a few studies involving genetic association and linkage disequilibrium (LD) analyses of in and around the APOE. Here, we report fine mapping of a genomic region (about 200 kb) including the APOE in Japanese using 260 SNPs (mean intermaker distance, 0.77 kb). A case-control study demonstrated that 36 of these SNPs exhibited significance after adjustment for multiple testing. These SNPs are located in a genomic region including four genes, PVRL2, TOMM40, APOE and APOC1. Recombination rate estimation revealed that the associated region is firmly sandwiched between two recombination hotspots. Strong LD between these SNPs was observed (mean |D'|=0.914). These data suggest that the three genes other than APOE, i.e. PVRL2, TOMM40 and APOC1, could also yield a predisposition to LOAD.

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APA 7th

Takei, N., Miyashita, A., Tsukie, T., Arai, H., Asada, T., Imagawa, M., et al. (2009). Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese. Genomics. https://doi.org/10.1016/j.ygeno.2009.01.003

Vancouver

Takei N, Miyashita A, Tsukie T, Arai H, Asada T, Imagawa M, et al. Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese. Genomics. 2009. doi:10.1016/j.ygeno.2009.01.003. PMID: 19442637.

BibTeX

@article{takei2009-19442637,
  author  = {Takei, N. and Miyashita, A. and Tsukie, T. and Arai, H. and Asada, T. and Imagawa, M. and Shoji, M. and Higuchi, S. and others},
  title   = {{Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese}},
  journal = {Genomics},
  year    = {2009},
  doi     = {10.1016/j.ygeno.2009.01.003},
  pmid    = {19442637},
  url     = {https://doi.org/10.1016/j.ygeno.2009.01.003}
}

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How to read this study

Design: this is a case-control study. People with the condition are compared with people without it, looking backward at past exposures. Recall of the past can be uneven between the groups, and the design shows association, not cause.
Size: the record gives no participant count. Look for one in the original before trusting a pattern.
Effect: the record gives no effect size, so the summary above cannot say how large any difference was.

What the evidence grade means here

This page is graded moderate. alzhub.org assigns the grade automatically from keywords in the abstract, not from reading the paper. Moderate means the abstract mentions a cohort, case-control or longitudinal design. 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

A case-control study demonstrated that 36 of these SNPs exhibited significance after adjustment for multiple testing.
Recombination rate estimation revealed that the associated region is firmly sandwiched between two recombination hotspots.
These data suggest that the three genes other than APOE, i.e.

Why it matters

In a Japanese case-control study using 260 genetic markers around the APOE gene, 36 markers were significantly associated with late-onset Alzheimer's disease. These markers lie in a region containing PVRL2, TOMM40, APOE and APOC1, suggesting that genes other than APOE in this region could also contribute to disease risk.

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Study details

Study designcase-control study
Evidence strengthModerate

How this study scored 49/100

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

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (Genomics)
Journal's citation record	2 / 4	Genomics: journal h-index 216 (OpenAlex, 2026-10-29)
Study design	6 / 12	A case-control study
Strength of evidence	3 / 5	Rated “moderate” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	1 / 5	2009 — 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	No randomization or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	5 / 7	Cited 142 times (OpenAlex, 2026-10-10)
Citations per year	2 / 5	7.5 citations a year over 19 year(s) since 2009
Impact for its field and year	3 / 6	Cited 6.9× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	2 / 6	Cited by 4 other studies in this library
Still being cited	1 / 4	Cited 10 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	2 / 4	Last-listed author Ryozo Kuwano: h-index 49 (OpenAlex, whole career)
Institution's track record	1 / 3	The University of Tokyo: institution h-index 1,463 (OpenAlex)
Multicenter collaboration	2 / 3	OpenAlex lists 9 institution(s) in 1 country
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 19442637)
Free to read	0 / 2	Behind a paywall — scores zero
Total	49 / 100	—

What each of these 20 components measures, and what this score is not →

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