ArticleThe Journal of clinical investigation2025
Genetic risk in telomere biology disorders: it adds up.
Article in The Journal of clinical investigation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
For many conditions, genotyping aids in clinical decision making. However, interpreting the clinical significance of genetic variants remains challenging, in part because a single risk variant does not always lead to disease, and variant carriers experience variable outcomes. One hypothesis underlying these phenomena, which are known as incomplete penetrance and variable expressivity, respectively, is that additional common genetic variation beyond the primary variant influences the presence and severity of disease. In this issue of JCI, Poeschla et al. present a compelling argument that common variants linked to telomere length act together with high-risk telomere biology disorder variants to scale outcomes. These data support a model in which many variants interact to shape cumulative risk.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.