African American exome sequencing identifies potential risk variants at Alzheimer disease loci
Aurelie N'Songo, Minerva M Carrasquillo, Xue Wang, Jeremy D Burgess, Thuy Nguyen, Yan W Asmann, Daniel J Serie, Steven G Younkin et al.. Neurology. Genetics, 2017-04-07
Topic: Genetics and APOE
Two ABCA7 missense variants (rs3764647 and rs3752239) demonstrated significant association with AD risk. Variants in MS4A6A, PTK2B, and ZCWPW1 showed significant gene-based association. In addition, coding variants in ZCWPW1 (rs6465770) and NME8 (rs10250905 and rs62001869) showed association with memory endophenotypes. Our findings support a role for ABCA7 missense variants in conferring AD risk in African Americans, highlight allelic heterogeneity at this locus, suggest the presence of AD-risk variants in MS4A6A, PTK2B, and ZCWPW1, nominate additional variants that may modulate cognition, and importantly provide a thorough screen of coding variants at AD GWAS loci that can guide future studies in this population.
Key findings
- Two ABCA7 missense variants (rs3764647 and rs3752239) demonstrated significant association with AD risk.
- Variants in MS4A6A, PTK2B, and ZCWPW1 showed significant gene-based association.
- In addition, coding variants in ZCWPW1 (rs6465770) and NME8 (rs10250905 and rs62001869) showed association with memory endophenotypes.
- Our findings support a role for ABCA7 missense variants in conferring AD risk in African Americans, highlight allelic heterogeneity at this locus, suggest the presence of AD-risk variants in MS4A6A, PTK2B, and ZCWPW1, nominate additional variants that may modulate cognition, and importantly provide a thorough screen of coding variants at AD GWAS loci that can guide future studies in this population.
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Study details
- Participants319
- Evidence strengthModerate
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 (Neurology. Genetics) |
| 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 | 2017 — within 10 year(s) of the newest study here |
| Sample size | 2 / 4 | 319 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 28480329) |
| 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 | — |
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Read the original
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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
N'Songo, A., Carrasquillo, M. M., Wang, X., Burgess, J. D., Nguyen, T., Asmann, Y. W., et al. (2017). African American exome sequencing identifies potential risk variants at Alzheimer disease loci. Neurology. Genetics. https://doi.org/10.1212/nxg.0000000000000141
Vancouver
N'Songo A, Carrasquillo MM, Wang X, Burgess JD, Nguyen T, Asmann YW, et al. African American exome sequencing identifies potential risk variants at Alzheimer disease loci. Neurology. Genetics. 2017. doi:10.1212/nxg.0000000000000141. PMID: 28480329.
BibTeX
@article{nsongo2017-28480329,
author = {N'Songo, Aurelie and Carrasquillo, Minerva M and Wang, Xue and Burgess, Jeremy D and Nguyen, Thuy and Asmann, Yan W and Serie, Daniel J and Younkin, Steven G and others},
title = {{African American exome sequencing identifies potential risk variants at Alzheimer disease loci}},
journal = {Neurology. Genetics},
year = {2017},
doi = {10.1212/nxg.0000000000000141},
pmid = {28480329},
url = {https://doi.org/10.1212/nxg.0000000000000141}
}
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