Genome-Wide association study of quantitative biomarkers identifies a novel locus for alzheimer's disease at 12p12.1
Brian Lee, Xiaohui Yao, Li Shen, Alzheimer’s Disease Neuroimaging Initiative. BMC genomics, 2022-01-28
Topic: Genetics and APOE
Using the data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), we performed a genome-wide association study (GWAS) between 565,373 single nucleotide polymorphisms (SNPs) and 16 key AD biomarkers from 1,576 subjects at four visits. We identified a novel locus rs5011804 at 12p12.1 significantly associated with several AD biomarkers, including three cognitive traits (CDRSB, FAQ, ADAS13) and one imaging trait (fusiform volume). Additional mediation and interaction analyses investigated the relationships among this SNP, relevant biomarkers, and clinical diagnosis, confirming and further elaborating the genetic effects seen in the GWAS. Our GWAS not only affirms key AD genes but also suggests the promising role of the SNP rs5011804 due to its associations with several AD cognitive and imaging outcomes. The SNP rs5011804 has a reported association with adult asthma and slightly affects intracranial volume but has not been associated with AD before. Our novel findings contribute to a more comprehensive view of the molecular mechanism behind AD.
Key findings
- Using the data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), we performed a genome-wide association study (GWAS) between 565,373 single nucleotide polymorphisms (SNPs) and 16 key AD biomarkers from 1,576 subjects at four visits.
- We identified a novel locus rs5011804 at 12p12.1 significantly associated with several AD biomarkers, including three cognitive traits (CDRSB, FAQ, ADAS13) and one imaging trait (fusiform volume).
- Additional mediation and interaction analyses investigated the relationships among this SNP, relevant biomarkers, and clinical diagnosis, confirming and further elaborating the genetic effects seen in the GWAS.
- Our GWAS not only affirms key AD genes but also suggests the promising role of the SNP rs5011804 due to its associations with several AD cognitive and imaging outcomes.
- The SNP rs5011804 has a reported association with adult asthma and slightly affects intracranial volume but has not been associated with AD before.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Participants1,576
- Evidence strengthLow
How this study scored 52/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multi-centre collaboration and free to read, so those were left out: it earned 29 of the 56 points we could judge it on, which is 52 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (BMC genomics) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 3 / 5 | 2022 — within 6 year(s) of the newest study here |
| Sample size | 3 / 4 | 1,576 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 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| 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 | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 35086473) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 29 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 29 of the 56 points we could judge it on is 52 out of 100. |
| Total | 52 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Free copy unknown: no free-copy check has an answer for this record yet. That does not mean it is paywalled.
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. Check the citation against the original before you use it.
APA 7th
Lee, B., Yao, X., Shen, L., & Alzheimer’s Disease Neuroimaging Initiative. (2022). Genome-Wide association study of quantitative biomarkers identifies a novel locus for alzheimer's disease at 12p12.1. BMC genomics. https://doi.org/10.1186/s12864-021-08269-8
Vancouver
Lee B, Yao X, Shen L, Alzheimer’s Disease Neuroimaging Initiative. Genome-Wide association study of quantitative biomarkers identifies a novel locus for alzheimer's disease at 12p12.1. BMC genomics. 2022. doi:10.1186/s12864-021-08269-8. PMID: 35086473.
BibTeX
@article{lee2022-35086473,
author = {Lee, Brian and Yao, Xiaohui and Shen, Li and {Alzheimer’s Disease Neuroimaging Initiative}},
title = {{Genome-Wide association study of quantitative biomarkers identifies a novel locus for alzheimer's disease at 12p12.1}},
journal = {BMC genomics},
year = {2022},
doi = {10.1186/s12864-021-08269-8},
pmid = {35086473},
url = {https://doi.org/10.1186/s12864-021-08269-8}
}