Genome-wide association study of language performance in Alzheimer's disease
Kacie D Deters, Kwangsik Nho, Shannon L Risacher, Sungeun Kim, Vijay K Ramanan, Paul K Crane, Liana G Apostolova, Andrew J Saykin et al.. Brain and language, 2017-05-31
Topic: Genetics and APOE
Language impairment is common in prodromal stages of Alzheimer's disease (AD) and progresses over time. However, the genetic architecture underlying language performance is poorly understood. To identify novel genetic variants associated with language performance, we analyzed brain MRI and performed a genome-wide association study (GWAS) using a composite measure of language performance from the Alzheimer's Disease Neuroimaging Initiative (ADNI; n=1560). The language composite score was associated with brain atrophy on MRI in language and semantic areas. GWAS identified GLI3 (GLI family zinc finger 3) as significantly associated with language performance (p<5×10-8). Enrichment of GWAS association was identified in pathways related to nervous system development and glutamate receptor function and trafficking. Our results, which warrant further investigation in independent and larger cohorts, implicate GLI3, a developmental transcription factor involved in patterning brain structures, as a putative gene associated with language dysfunction in AD.
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APA 7th
Deters, K. D., Nho, K., Risacher, S. L., Kim, S., Ramanan, V. K., Crane, P. K., et al. (2017). Genome-wide association study of language performance in Alzheimer's disease. Brain and language. https://doi.org/10.1016/j.bandl.2017.04.008
Vancouver
Deters KD, Nho K, Risacher SL, Kim S, Ramanan VK, Crane PK, et al. Genome-wide association study of language performance in Alzheimer's disease. Brain and language. 2017. doi:10.1016/j.bandl.2017.04.008. PMID: 28577822.
BibTeX
@article{deters2017-28577822,
author = {Deters, Kacie D and Nho, Kwangsik and Risacher, Shannon L and Kim, Sungeun and Ramanan, Vijay K and Crane, Paul K and Apostolova, Liana G and Saykin, Andrew J and others},
title = {{Genome-wide association study of language performance in Alzheimer's disease}},
journal = {Brain and language},
year = {2017},
doi = {10.1016/j.bandl.2017.04.008},
pmid = {28577822},
url = {https://doi.org/10.1016/j.bandl.2017.04.008}
}
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Key findings
- To identify novel genetic variants associated with language performance, we analyzed brain MRI and performed a genome-wide association study (GWAS) using a composite measure of language performance from the Alzheimer's Disease Neuroimaging Initiative (ADNI; n=1560).
- The language composite score was associated with brain atrophy on MRI in language and semantic areas.
- GWAS identified GLI3 (GLI family zinc finger 3) as significantly associated with language performance (p<5×10-8).
- Our results, which warrant further investigation in independent and larger cohorts, implicate GLI3, a developmental transcription factor involved in patterning brain structures, as a putative gene associated with language dysfunction in AD.
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Study details
- Participants1,560
- Evidence strengthLow
How this study scored 50/100
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 28 of the 56 points we could judge it on, which is 50 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Brain and language) |
| 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 | 2 / 5 | 2017 — within 10 year(s) of the newest study here |
| Sample size | 3 / 4 | 1,560 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 28577822) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 28 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 28 of the 56 points we could judge it on is 50 out of 100. |
| Total | 50 / 100 | — |
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