Evidence map›Paper›PMID 30467309›Full record

ArticleNature communications2018

Molecular insights into genome-wide association studies of chronic kidney disease-defining traits.

Xiaoguang Xu, James M Eales, Artur Akbarov, Hui Guo, Lorenz Becker, David Talavera, Fehzan Ashraf, Jabran Nawaz, Sanjeev Pramanik, John Bowes and 15 more

Abstract read
In one paragraph

Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed, 5 pooled it
–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

45 citing papers in PubMed, 5 syntheses or guidelines pooled it.

  1. Pooled it
  2. Systematic review of associations between HLA and renal function.International journal of immunogenetics · 2022
    Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Article
  7. Article
  8. Article
  9. Review
  10. Review
  11. Review
  12. Expression and distribution of MUC1 in the developing and adult kidney.American journal of physiology. Renal physiology · 2025
    Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Review
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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

25 authors.

Xiaoguang XuDivision of Cardiovascular Sciences, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PT, UK.ORCID http://orcid.org/0000-0003-4568-1623
James M EalesDivision of Cardiovascular Sciences, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PT, UK.ORCID http://orcid.org/0000-0001-6238-5952
Artur AkbarovDivision of Cardiovascular Sciences, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PT, UK.
Hui GuoDivision of Population Health, Health Services Research and Primary Care, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PL, UK.ORCID http://orcid.org/0000-0003-0282-6933
Lorenz BeckerDivision of Cardiovascular Sciences, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PT, UK.ORCID http://orcid.org/0000-0001-7407-6911
David TalaveraDivision of Cardiovascular Sciences, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PT, UK.ORCID http://orcid.org/0000-0002-8820-3931
Fehzan AshrafDivision of Cardiovascular Sciences, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PT, UK.
Jabran NawazDivision of Cardiovascular Sciences, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PT, UK.
Sanjeev PramanikDivision of Cardiovascular Sciences, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PT, UK.ORCID http://orcid.org/0000-0003-2317-3628
John BowesDivision of Musculoskeletal and Dermatological Sciences, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PT, UK.ORCID http://orcid.org/0000-0003-4659-031X
Xiao JiangDivision of Cardiovascular Sciences, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PT, UK.ORCID http://orcid.org/0000-0002-1442-8927
John DormerUniversity Hospitals of Leicester NHS Trust, Leicester, LE1 5WW, UK.
Matthew DenniffDepartment of Cardiovascular Sciences, University of Leicester, Leicester, LE3 9QP, UK.
Andrzej AntczakDepartment of Urology and Uro-oncology, Karol Marcinkowski University of Medical Sciences, Poznan, 61-285, Poland.
Monika SzulinskaDepartment of Internal Medicine, Metabolic Disorders and Hypertension, Karol Marcinkowski University of Medical Sciences, Poznan, 60-569, Poland.ORCID http://orcid.org/0000-0002-1163-0919
Ingrid WiseSchool of Health and Life Sciences, Federation University Australia, Ballarat, 3350, VIC, Australia.ORCID http://orcid.org/0000-0001-6845-535X
Priscilla R PrestesSchool of Health and Life Sciences, Federation University Australia, Ballarat, 3350, VIC, Australia.ORCID http://orcid.org/0000-0002-9034-6595
Maciej GlydaDepartment of Transplantology and General Surgery, District Public Hospital, University of Zielona Góra, Poznan, 65-417, Poland.
Pawel BogdanskiDepartment of Obesity and Metabolic Disorders Treatment and Clinical Dietetics, Karol Marcinkowski University of Medical Sciences, Poznan, 60-569, Poland.ORCID http://orcid.org/0000-0002-0563-1624
Ewa Zukowska-SzczechowskaDepartment of Health Care, Silesian Medical College, Katowice, 40-085, Poland.
Carlo BerzuiniDivision of Population Health, Health Services Research and Primary Care, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PL, UK.ORCID http://orcid.org/0000-0001-6056-0489
Adrian S WoolfDepartment of Paediatric Nephrology, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.
Nilesh J SamaniDepartment of Cardiovascular Sciences, University of Leicester, Leicester, LE3 9QP, UK.
Fadi J CharcharDepartment of Cardiovascular Sciences, University of Leicester, Leicester, LE3 9QP, UK.ORCID http://orcid.org/0000-0002-6164-9941
Maciej TomaszewskiDivision of Cardiovascular Sciences, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PT, UK. maciej.tomaszewski@manchester.ac.uk.ORCID http://orcid.org/0000-0001-8215-6567

Funding

British Heart Foundation PG/17/35/33001Medical Research Council MR/K026739/1
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have identified >100 loci of chronic kidney disease-defining traits (CKD-dt). Molecular mechanisms underlying these associations remain elusive. Using 280 kidney transcriptomes and 9958 gene expression profiles from 44 non-renal tissues we uncover gene expression partners (eGenes) for 88.9% of CKD-dt GWAS loci. Through epigenomic chromatin segmentation analysis and variant effect prediction we annotate functional consequences to 74% of these loci. Our colocalisation analysis and Mendelian randomisation in >130,000 subjects demonstrate causal effects of three eGenes (NAT8B, CASP9 and MUC1) on estimated glomerular filtration rate. We identify a common alternative splice variant in MUC1 (a gene responsible for rare Mendelian form of kidney disease) and observe increased renal expression of a specific MUC1 mRNA isoform as a plausible molecular mechanism of the GWAS association signal. These data highlight the variants and genes underpinning the associations uncovered in GWAS of CKD-dt.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideGene Expression ProfilingGenetic Predisposition to DiseaseGenotypeHumansKidneyPhenotypeRenal Insufficiency, Chronic

Identifiers

PMID30467309
PMCPMC6250666

What Socratic 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 Socratic graph.