Evidence map›Paper›PMID 40485680›Full record

ArticleKidney international reports2025

Clinical and Metabolic Signatures of

Dariush Ghasemi-Semeskandeh, Eva König, Luisa Foco, Nikola Dordevic, Martin Gögele, Johannes Rainer, Markus Ralser, Dianne Acoba, Francisco S Domingues, Dorien J M Peters and 2 more

Abstract read
In one paragraph

Article in Kidney international reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Focus on a CKD-Associated Locus:Kidney international reports · 2025
    Article
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Dariush Ghasemi-SemeskandehDepartment of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Eva KönigInstitute for Biomedicine, Eurac Research, Bolzano, Italy.
Luisa FocoInstitute for Biomedicine, Eurac Research, Bolzano, Italy.
Nikola DordevicInstitute for Biomedicine, Eurac Research, Bolzano, Italy.
Martin GögeleInstitute for Biomedicine, Eurac Research, Bolzano, Italy.
Johannes RainerInstitute for Biomedicine, Eurac Research, Bolzano, Italy.
Markus RalserInstitute of Biochemistry, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Dianne AcobaClinical Renal, Late-stage Development, Cardiovascular, Renal and Metabolism, Bio Pharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden.
Francisco S DominguesInstitute for Biomedicine, Eurac Research, Bolzano, Italy.
Dorien J M PetersDepartment of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Peter P PramstallerInstitute for Biomedicine, Eurac Research, Bolzano, Italy.
Cristian PattaroInstitute for Biomedicine, Eurac Research, Bolzano, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Genome-wide association studies (GWAS) identified a locus on chromosome 4q21.1, spanning the Family With Sequence Similarity 47 Member E Methods: For the 4 genes, we reconstructed haplotypes spanning 71 exonic and intronic variants for 12,834 participants in the Cooperative Health Research in South Tyrol (CHRIS) study based on genotypes imputed on a local whole-exome sequencing (WES) reference panel. Haplotypes were tested for associations with 72 clinical traits, 170 serum metabolites, and 148 plasma protein concentrations, using linear regression models. Results: We identified 11 haplotypes with a population frequency between 2% and 24%. Compared with the most common haplotype, most haplotypes were associated with higher creatinine-based estimated glomerular filtration rate (eGFR) and lower serum magnesium levels. In addition, specific haplotypes were also associated with biologically diverse groups of traits, including albuminuria, blood pressure, red blood cell traits, carnitines, and amino acids. Cluster analysis highlighted the existence of distinct genetic profiles in which individuals with specific haplotypes presented with specific phenotypic and metabolic signatures. Conclusion: The genetic variability of the

Indexed as

CCDC158FAM47EhaplotypekidneySHROOM3STBD1

Identifiers

PMID40485680
PMCPMC12142803

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.