ArticleHuman heredity2025
Weighted Burden Analysis of Rare Genetic Variants Identifies Novel Genes with Effects on BMI.
Article in Human heredity, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
- Erratum issuedErratum.2026
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionA previous study of 200,000 exome-sequenced UK Biobank participants investigating the association between rare coding variants and BMI had implicated two genes, MC4R and PCSK1, at exome-wide significance. In addition, further 66 genes were significant with an uncorrected p value of <0.001.
methodsExome sequence data have become available for further 270,000 participants, and weighted burden analyses to test for association with BMI were carried out in this sample for all the 68 genes highlighted by the previous study.
resultsThree novel genes, in addition to MC4R and PCSK1, were significant after correction for multiple testing: PTOV1, GALNT9, and ATP8B2. All five genes were exome-wide significant in the whole sample of 470,000 participants. Rare coding variants impairing gene function were associated with reduced BMI for ATP8B2 but increased BMI for the other genes, and for all genes, loss of function variants had larger effect sizes than nonsynonymous variants.
conclusionThe biological mechanisms whereby the novel genes might affect BMI are not clear, although impairment of ATP8B2 might possibly have an effect on insulin secretion. Functional studies might throw further light on how these genes are involved in regulation of body weight. Collectively, the identified variants are very rare and do not make a major contribution to variation in BMI in the population. This research has been conducted using the UK Biobank Resource.
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.