Genome-wide association study identifies SIAH3 locus influencing the rate of ventricular enlargement in non-demented elders
Xian Li, Shu-Guang Chu, Xue-Ning Shen, Xiao-He Hou, Wei Xu, Ya-Nan Ou, Qiang Dong, Lan Tan et al.. Aging, 2019-11-11
Topic: Genetics and APOE
Ventricular enlargement occurs in several neurodegenerative and psychiatric diseases. A large genome-wide association study (GWAS) has identified seven loci associated with ventricular volume. The rate of ventricular enlargement increased in the progression of disease from normal cognition to dementia. Here, we aimed to use the rate of ventricular enlargement as an endophenotype for the development and progression of neurodegenerative diseases to discover more common genetic variants. We performed a GWAS of the rate of ventricular enlargement using 507 nondemented non-Hispanic white participants from the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort. Linear regression model was used to identify the association of the rate of ventricular enlargement with single nucleotide polymorphisms (SNPs) in PLINK software. The associations of genome-wide significant SNPs with other four phenotypes were further discussed. Two SNPs (rs11620312, P = 4.04×10-8; rs79174114, P = 4.28×10-8) within SIAH3 gene in linkage disequilibrium (LD) reached genome-wide significance for association with increased rate of ventricular enlargement. Some intergenic SNPs and SNPs within NKAIN2, TBC1D2, GALNT18, ABCC1 and SRCIN1 genes were identified as potential candidates. SIAH3 rs11620312-C carriers were associated with poor cognition and brain hypometabolism longitudinally. Our findings indicated that SIAH3 gene may have potential influence on the pathogenesis of neurodegenerative diseases.
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APA 7th
Li, X., Chu, S.-G., Shen, X.-N., Hou, X.-H., Xu, W., Ou, Y.-N., et al. (2019). Genome-wide association study identifies SIAH3 locus influencing the rate of ventricular enlargement in non-demented elders. Aging. https://doi.org/10.18632/aging.102435
Vancouver
Li X, Chu S.-G, Shen X.-N, Hou X.-H, Xu W, Ou Y.-N, et al. Genome-wide association study identifies SIAH3 locus influencing the rate of ventricular enlargement in non-demented elders. Aging. 2019. doi:10.18632/aging.102435. PMID: 31711042.
BibTeX
@article{li2019-31711042,
author = {Li, Xian and Chu, Shu-Guang and Shen, Xue-Ning and Hou, Xiao-He and Xu, Wei and Ou, Ya-Nan and Dong, Qiang and Tan, Lan and others},
title = {{Genome-wide association study identifies SIAH3 locus influencing the rate of ventricular enlargement in non-demented elders}},
journal = {Aging},
year = {2019},
doi = {10.18632/aging.102435},
pmid = {31711042},
url = {https://doi.org/10.18632/aging.102435}
}
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Key findings
- A large genome-wide association study (GWAS) has identified seven loci associated with ventricular volume.
- The associations of genome-wide significant SNPs with other four phenotypes were further discussed.
- SIAH3 rs11620312-C carriers were associated with poor cognition and brain hypometabolism longitudinally.
- Our findings indicated that SIAH3 gene may have potential influence on the pathogenesis of neurodegenerative diseases.
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Study details
- Evidence strengthModerate
How this study scored 43/100
Published in a peer-reviewed journal. 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 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 24 of the 56 points we could judge it on, which is 43 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Aging) |
| 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 | 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 | 2 / 5 | 2019 — within 10 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 | — / 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 31711042) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 24 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 24 of the 56 points we could judge it on is 43 out of 100. |
| Total | 43 / 100 | — |
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