Y chromosome mosaicism is associated with age-related macular degeneration
Grassmann F, Kiel C, den Hollander AI, Weeks DE, Lotery A, Cipriani V, Weber BHF, International Age-related Macular Degeneration Genomics Consortium (IAMDGC).. European journal of human genetics : EJHG, 2018-08-29
Topic: Brain proteins, microglia and lab models
Age-related macular degeneration (AMD) is the leading cause of blindness in industrialised countries, and thereby a major individual but also a socio-economic burden. Y chromosome loss in nucleated blood cells has been implicated in age-related diseases such as Alzheimer disease and was shown to be caused by increasing age, smoking and genetic factors. Mosaic loss of Y chromosome (mLOY) in peripheral blood was estimated from normalised dosages of genotyping chip data covering the male-specific region of the Y chromosome. After quality control, we assessed the association of mLOY on AMD risk in 5772 male cases and 6732 male controls. In controls the prevalence of mLOY increased significantly with age, which is consistent with previous reports. Importantly, mLOY was associated with late-stage AMD with genome-wide significance (OR: 1.332 [95% CI: 1.206; 1.472], P = 1.60e-08), independent of age, the AMD genetic risk score and the first two principle components of ancestry. Additionally conditioning on smoking behaviour had no influence on the observed association strength. mLOY was strongest associated in individuals aged between 65 and 75 years. Taken together, mLOY is significantly associated with risk for AMD, independent of known and potential confounding factors.
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APA 7th
Grassmann, F., Kiel, C., den Hollander, A. I., Weeks, D. E., Lotery, A., Cipriani, V., et al. (2019). Y chromosome mosaicism is associated with age-related macular degeneration. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-018-0238-8
Vancouver
Grassmann F, Kiel C, den Hollander AI, Weeks DE, Lotery A, Cipriani V, et al. Y chromosome mosaicism is associated with age-related macular degeneration. European journal of human genetics : EJHG. 2019. doi:10.1038/s41431-018-0238-8. PMID: 30158665.
BibTeX
@article{grassmann2019-30158665,
author = {Grassmann, F. and Kiel, C. and den Hollander, A. I. and Weeks, D. E. and Lotery, A. and Cipriani, V. and Weber, B. H. F.},
title = {{Y chromosome mosaicism is associated with age-related macular degeneration}},
journal = {European journal of human genetics : EJHG},
year = {2019},
doi = {10.1038/s41431-018-0238-8},
pmid = {30158665},
url = {https://doi.org/10.1038/s41431-018-0238-8}
}
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Key findings
- In controls the prevalence of mLOY increased significantly with age, which is consistent with previous reports.
- Importantly, mLOY was associated with late-stage AMD with genome-wide significance (OR: 1.332 [95% CI: 1.206; 1.472], P = 1.60e-08), independent of age, the AMD genetic risk score and the first two principle components of ancestry.
- Taken together, mLOY is significantly associated with risk for AMD, independent of known and potential confounding factors.
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Study details
- Effect sizeOR: 1.332
- Evidence strengthLow
How this study scored 47/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, 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 and multi-centre collaboration, so those were left out: it earned 27 of the 58 points we could judge it on, which is 47 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (European journal of human genetics : EJHG) |
| 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 | 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 | 3 / 3 | Effect reported with a statistic (interval, p-value, ratio or similar) |
| 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 30158665) |
| Free to read | 2 / 2 | Free to read |
| Points | 27 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 27 of the 58 points we could judge it on is 47 out of 100. |
| Total | 47 / 100 | — |
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