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Discordance Between Genetic Ancestry and Self-Reported Race Impacts Inference of Neuropsychiatric Burden in Alzheimer's Disease
Kumar, A.; Kannappan, B.; Ray, N. R.; Kurup, J. T.; Rosario, P. D.; De Vito, A. N.; Cuccaro, M. L.; Beecham et al.. medRxiv (preprint), 2026-08-26
Topic: Amyloid, tau and blood-test diagnosis
IntroductionNeuropsychiatric symptoms (NPS)--including aggression, psychosis, anxiety, apathy, and depression--affect up to 85% of individuals with Alzheimers disease (AD) and are among its most disabling and costly manifestations, accelerating cognitive and functional decline, institutionalization, mortality, and healthcare costs. NPS prevalence has largely been characterized using self-reported race. Whether NPS differs across genetically defined ancestry groups--and whether self-reported race obscures these differences--remains unknown, limiting accurate risk stratification and treatment development. MethodsUsing whole-genome sequencing data from 7,118 ADSP participants, we defined three NPS clusters from the NPI-Q: early psychosis (CDR 0.5-1), late psychosis (CDR 2-3), and affective symptoms. Genetic ancestry was inferred by principal component clustering, identifying six groups (EUR, AFR, EAS, SAS, AMR, ADMIXED), and compared with self-reported race/ethnicity. NPS prevalence was compared across genetic ancestry groups and genetic ancestry and self-reported race using Fishers exact and regression models. ResultsGenetic ancestry assignment differed markedly from self-reported race, affecting NPS prevalence estimates. NPS prevalence also differed across ancestry groups; affective symptoms were highest in EAS (90%) and SAS (77%) and lowest in AFR (66%), while psychosis was highest in EAS (74%) and SAS (70%) and lowest in AMR (55%) and EUR (56%), with similar patterns for early and late psychosis.
Key findings
- Genetic ancestry was inferred by principal component clustering, identifying six groups (EUR, AFR, EAS, SAS, AMR, ADMIXED), and compared with self-reported race/ethnicity.
Why it matters
This study found that genetic ancestry assignment differed markedly from self-reported race and that neuropsychiatric symptom prevalence differed across ancestry groups. It concerns how race and ancestry are measured in research, not treatment, cure or prevention.
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Study details
- Evidence strengthLow
How this study scored 16/100
Preprint — not yet peer-reviewed. It scored 23 on the same rubric, but non-peer-reviewed sources are capped at 16, so it shows as 16. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on impact for its field and year, so that was left out: it earned 22 of the 94 points we could judge it on, which is 23 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 2 / 10 | Tier 4 — not a peer-reviewed journal (medRxiv (preprint)) |
| Journal's citation record | 0 / 4 | Not a journal article, so the journal's record does not count |
| 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 | 4 / 10 | Preprint — not yet peer-reviewed. Hosted on a preprint server. |
| How recent | 5 / 5 | 2026 — within 1 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 | 0 / 7 | Cited 0 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.0 citations a year over 2 year(s) since 2026 |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| 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 Christiane Reitz: h-index 50 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Columbia University: institution h-index 1,824 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 5 institution(s) in 1 country |
| Indexed in PubMed | 1 / 2 | Not in PubMed, but has a DOI |
| Free to read | 2 / 2 | Free to read |
| Points | 22 / 94 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 22 of the 94 points we could judge it on is 23 out of 100. |
| Total | 23 / 100 | Capped to 16 because this is not a peer-reviewed article. |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
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.
APA 7th
Kumar, A., Kannappan, B., Ray, N. R., Kurup, J. T., Rosario, P. D., De Vito, A. N., et al. (2026). Discordance Between Genetic Ancestry and Self-Reported Race Impacts Inference of Neuropsychiatric Burden in Alzheimer's Disease. medRxiv (preprint). https://doi.org/10.64898/2026.08.23.26361161
Vancouver
Kumar A, Kannappan B, Ray NR, Kurup JT, Rosario PD, De Vito AN, et al. Discordance Between Genetic Ancestry and Self-Reported Race Impacts Inference of Neuropsychiatric Burden in Alzheimer's Disease. medRxiv (preprint). 2026. doi:10.64898/2026.08.23.26361161.
BibTeX
@article{kumar2026-ffb939da,
author = {Kumar, A. and Kannappan, B. and Ray, N. R. and Kurup, J. T. and Rosario, P. D. and De Vito, A. N. and Cuccaro, M. L. and Beecham and others},
title = {{Discordance Between Genetic Ancestry and Self-Reported Race Impacts Inference of Neuropsychiatric Burden in Alzheimer's Disease}},
journal = {medRxiv (preprint)},
year = {2026},
doi = {10.64898/2026.08.23.26361161},
url = {https://doi.org/10.64898/2026.08.23.26361161}
}
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