Topic: Genetics and APOE
No variant passed the genome-wide significance threshold (p = 5 × 10- 8) in the case-control GWAS. We identified suggestive association signals in genes (NLRP1, SCIMP, and C1QBP) implicated in the inflammatory processes. Among the genes implicated by position mapping using variants suggestively associated (p < 1 × 10- 5) with ALT elevation case-control status, gene sets involved in innate immune response (adjusted p-value = 0.05) and regulation of cytokine production (adjusted p-value = 0.04) were enriched. One genomic region in the intronic region of GABRG3 passed the genome-wide significance threshold in the continuous max(ALT/ULN) GWAS, and this variant was nominally associated with ALT elevation case status (p = 0.009). The suggestive GWAS signals in the case-control GWAS analysis suggest the potential role of inflammation in atabecestat-induced liver enzyme elevation.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Li, Q. S., Francke, S., Snoeys, J., Thipphawong, J., Romano, G., & Novak, G. P. (2023). Genome-wide association study of abnormal elevation of ALT in patients exposed to atabecestat. BMC genomics. https://doi.org/10.1186/s12864-023-09625-6
Vancouver
Li QS, Francke S, Snoeys J, Thipphawong J, Romano G, Novak GP. Genome-wide association study of abnormal elevation of ALT in patients exposed to atabecestat. BMC genomics. 2023. doi:10.1186/s12864-023-09625-6. PMID: 37658353.
BibTeX
@article{li2023-37658353,
author = {Li, Qingqin S and Francke, Stephan and Snoeys, Jan and Thipphawong, John and Romano, Gary and Novak, Gerald P},
title = {{Genome-wide association study of abnormal elevation of ALT in patients exposed to atabecestat}},
journal = {BMC genomics},
year = {2023},
doi = {10.1186/s12864-023-09625-6},
pmid = {37658353},
url = {https://doi.org/10.1186/s12864-023-09625-6}
}
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Key findings
- No variant passed the genome-wide significance threshold (p = 5 × 10- 8) in the case-control GWAS.
- We identified suggestive association signals in genes (NLRP1, SCIMP, and C1QBP) implicated in the inflammatory processes.
- Among the genes implicated by position mapping using variants suggestively associated (p < 1 × 10- 5) with ALT elevation case-control status, gene sets involved in innate immune response (adjusted p-value = 0.05) and regulation of cytokine production (adjusted p-value = 0.04) were enriched.
- One genomic region in the intronic region of GABRG3 passed the genome-wide significance threshold in the continuous max(ALT/ULN) GWAS, and this variant was nominally associated with ALT elevation case status (p = 0.009).
- The suggestive GWAS signals in the case-control GWAS analysis suggest the potential role of inflammation in atabecestat-induced liver enzyme elevation.
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Study details
- Study designcase-control study
- Participants285
- Evidence strengthModerate
How this study scored 64/100
Published in a peer-reviewed journal, and it is a case-control study. Scored zero for effect reported and randomized / 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, multicenter collaboration and free to read, so those were left out: it earned 36 of the 56 points we could judge it on, which is 64 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 | 6 / 12 | A case-control study |
| 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 | 3 / 5 | 2023 — within 6 year(s) of the newest study here |
| Sample size | 2 / 4 | 285 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) |
| Randomized / blinded | 0 / 2 | No randomization 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 |
| Multicenter collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 37658353) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 36 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 36 of the 56 points we could judge it on is 64 out of 100. |
| Total | 64 / 100 | — |
What each of these 20 components measures, and what this score is not →
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