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Apolipoprotein E epsilon 4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers
Ezquerra M, Ballesta F, Queralt R, Aledo R, Gómez D, Guitart M, Egozcue J, Ascaso C et al.. Neuroscience letters, 1998-05-01
Topic: Brain proteins, microglia and lab models
An increased risk of Alzheimer disease (AD) has been reported in young mothers of Down syndrome (DS) probands. Subsequently, an increased frequency of the apolipoprotein E (apoE) allele epsilon 4 has been found in mothers ( 28 years of age (0.089), although the differences are not significant if correction for multiple comparisons is applied. The simplest overall interpretation of the previously reported and present findings is that the detected associations are due to random statistical variation rather than to some real effect of the epsilon 4 allele. However the important potential implications of alternative explanations imply that this issue deserves further clarification in independent studies in other populations.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Ezquerra, M., Ballesta, F., Queralt, R., Aledo, R., Gómez, D., Guitart, M., et al. (1998). Apolipoprotein E epsilon 4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers. Neuroscience letters. https://doi.org/10.1016/s0304-3940(98)00251-1
Vancouver
Ezquerra M, Ballesta F, Queralt R, Aledo R, Gómez D, Guitart M, et al. Apolipoprotein E epsilon 4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers. Neuroscience letters. 1998. doi:10.1016/s0304-3940(98)00251-1. PMID: 9665649.
BibTeX
@article{ezquerra1998-9665649,
author = {Ezquerra, M. and Ballesta, F. and Queralt, R. and Aledo, R. and Gómez, D. and Guitart, M. and Egozcue, J. and Ascaso, C. and others},
title = {{Apolipoprotein E epsilon 4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers}},
journal = {Neuroscience letters},
year = {1998},
doi = {10.1016/s0304-3940(98)00251-1},
pmid = {9665649},
url = {https://doi.org/10.1016/s0304-3940(98)00251-1}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
Key findings
- An increased risk of Alzheimer disease (AD) has been reported in young mothers of Down syndrome (DS) probands.
- Subsequently, an increased frequency of the apolipoprotein E (apoE) allele epsilon 4 has been found in mothers ( 28 years of age (0.089), although the differences are not significant if correction for multiple comparisons is applied.
- The simplest overall interpretation of the previously reported and present findings is that the detected associations are due to random statistical variation rather than to some real effect of the epsilon 4 allele.
Why it matters
This study examined apolipoprotein E epsilon 4 frequencies in mothers and fathers of children with Down syndrome and the meiotic origin of non-disjunction. The authors conclude the simplest interpretation is that the previously reported associations are due to random statistical variation rather than a real effect of the epsilon 4 allele, though they say the issue deserves further study.
Study details
- Evidence strengthLow
How this study scored 33/100
Published in a peer-reviewed journal. Scored zero for study design, 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 (Neuroscience letters) |
| Journal's citation record | 3 / 4 | Neuroscience Letters: journal h-index 267 (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 | 1 / 5 | 1998 — older than 20 years, still counted |
| 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 | 2 / 7 | Cited 10 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.3 citations a year over 30 year(s) since 1998 |
| Impact for its field and year | 1 / 6 | Cited 0.8× 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 | 3 / 4 | Last-listed author Rafael Oliva: h-index 61 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Universitat de Barcelona: institution h-index 1,049 (OpenAlex) |
| Multicenter collaboration | 2 / 3 | OpenAlex lists 4 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 9665649) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 33 / 100 | — |
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