ArticleJournal of the Endocrine Society2025
Influence of Polygenic Risk on Height and BMI in Adults With a 22q11.2 Microdeletion.
Article in Journal of the Endocrine Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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
2 citing papers in PubMed.
- Combinatorial effects of gene dosage, polygenic background and environment on complex traits.medRxiv : the preprint server for health sciences · 2026Article
- Influence of Polygenic Risk on Height and BMI in Adults With a 22q11.2 Microdeletion.Journal of the Endocrine Society · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
Context: Elevated a priori risk may enhance the likelihood that common variant effects, captured collectively in a polygenic risk score (PRS), approach clinical utility. Objective: In this study, we investigated the modifying effect of PRSs for adult height and body mass index (BMI) in individuals with elevated baseline risk for short stature (<3rd percentile height) and obesity (BMI ≥30) conferred by a 22q11.2 microdeletion. Methods: We tested height-PRS and BMI-PRS for association with their respective phenotypes in 259 adults of European ancestry with a 22q11.2 microdeletion using sequencing data and multivariable linear regression models to account for clinical/demographic variables. Results: In multivariable linear regression models, height-PRS and BMI-PRS explained 25.8% and 5.7% of the variance in their respective traits ( Conclusion: The results demonstrate that adult height and BMI can be influenced by the effects of genome-wide common variants in the presence of a rare variant conferring elevated a priori risk. Height-PRS may help refine growth expectations in individuals with 22q11.2 microdeletion.
Indexed as
Identifiers
What OpenQuestion holds
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.