Evidence map›Paper›PMID 37989975›Full record

ReviewJournal of nephrology2024

Monogenic and polygenic concepts in chronic kidney disease (CKD).

Julia Jefferis, Rebecca Hudson, Paul Lacaze, Andrew Bakshi, Carmel Hawley, Chirag Patel, Andrew Mallett

Open access · hybridAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of nephrology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
2.2field-weighted citation impact, top 12% of its field
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

16 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Review
  5. Article
  6. Review
  7. Article
  8. Structured Application of Genetic Testing in a Pediatric Kidney Clinic.Journal of the American Society of Nephrology : JASN · 2026
    Article
  9. Article
  10. The new insights of lactate in various kidney diseases.Expert reviews in molecular medicine · 2025
    Review
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. 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

7 authors at 4 institutions in 1 country.

Julia JefferisGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia. Julia.jefferis@health.qld.gov.au.
Rebecca HudsonFaculty of Medicine, University of Queensland, Brisbane, Australia.
Paul LacazeSchool of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.
Andrew BakshiSchool of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.
Carmel HawleyDepartment of Nephrology, Princess Alexandra Hospital, Woolloongabba, QLD, Australia.
Chirag PatelGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Andrew MallettInstitutional for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Saint Lucia, Australia. andrew.mallett@health.qld.gov.au.ORCID 0000-0002-8752-2551
The University of Queensland · AUMonash Health · AURoyal Brisbane and Women's Hospital · AUTranslational Research Institute · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Kidney function is strongly influenced by genetic factors with both monogenic and polygenic factors contributing to kidney function. Monogenic disorders with primarily autosomal dominant inheritance patterns account for 10% of adult and 50% of paediatric kidney diseases. However, kidney function is also a complex trait with polygenic architecture, where genetic factors interact with environment and lifestyle factors. Family studies suggest that kidney function has significant heritability at 35-69%, capturing complexities of the genome with shared environmental factors. Genome-wide association studies estimate the single nucleotide polymorphism-based heritability of kidney function between 7.1 and 20.3%. These heritability estimates, measuring the extent to which genetic variation contributes to CKD risk, indicate a strong genetic contribution. Polygenic Risk Scores have recently been developed for chronic kidney disease and kidney function, and validated in large populations. Polygenic Risk Scores show correlation with kidney function but lack the specificity to predict individual-level changes in kidney function. Certain kidney diseases, such as membranous nephropathy and IgA nephropathy that have significant genetic components, may benefit most from polygenic risk scores for improved risk stratification. Genetic studies of kidney function also provide a potential avenue for the development of more targeted therapies and interventions. Understanding the development and validation of genomic scores is required to guide their implementation and identify the most appropriate potential implications in clinical practice. In this review, we provide an overview of the heritability of kidney function traits in population studies, explore both monogenic and polygenic concepts in kidney disease, with a focus on recently developed polygenic risk scores in kidney function and chronic kidney disease, and review specific diseases which are most amenable to incorporation of genomic scores.

Indexed as

Multifactorial InheritanceRenal Insufficiency, ChronicAdultChildGenetic Predisposition to DiseaseGenetic Risk ScoreGenome-Wide Association StudyHumansPhenotypePolymorphism, Single NucleotideHeritabilityHypertensionIgA nephropathyKidney functionMembranous nephropathyPolygenic risk score

Identifiers

PMID37989975
PMCPMC10920206
OpenAlexW4388858839

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.