Evidence map›Paper›PMID 36227936›Full record

ArticlePloS one2022

Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.

Dionysios Grigoriadis, Ege Sackey, Katie Riches, Malou van Zanten, Glen Brice, Ruth England, Mike Mills, Sara E Dobbins, Li Ling Lee, Lipoedema Consortium and 9 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
3.5field-weighted citation impact, top 6% 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, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.

  1. Pooled it
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  11. Etiology and treatment of cancer-related secondary lymphedema.Clinical & experimental metastasis · 2024
    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

19 authors at 4 institutions in 1 country.

Dionysios GrigoriadisMolecular and Clinical Sciences Institute, St George's University of London, London, United Kingdom.
Ege SackeyMolecular and Clinical Sciences Institute, St George's University of London, London, United Kingdom.
Katie RichesUniversity Hospitals of Derby and Burton NHS Foundation Trust, Derby, United Kingdom.
Malou van ZantenMolecular and Clinical Sciences Institute, St George's University of London, London, United Kingdom.
Glen BriceSouth West Thames Regional Genetics Unit, St George's University of London, London, United Kingdom.
Ruth EnglandUniversity Hospitals of Derby and Burton NHS Foundation Trust, Derby, United Kingdom.
Mike MillsMolecular and Clinical Sciences Institute, St George's University of London, London, United Kingdom.ORCID 0000-0001-6316-4561
Sara E DobbinsMolecular and Clinical Sciences Institute, St George's University of London, London, United Kingdom.ORCID 0000-0001-5320-3467
Li Ling LeeMolecular and Clinical Sciences Institute, St George's University of London, London, United Kingdom.
Lipoedema Consortium
Genomics England Research Consortium
Steve JefferyMolecular and Clinical Sciences Institute, St George's University of London, London, United Kingdom.
Liang DongMetabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.
David B SavageMetabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.
Peter S MortimerMolecular and Clinical Sciences Institute, St George's University of London, London, United Kingdom.
Vaughan KeeleyUniversity Hospitals of Derby and Burton NHS Foundation Trust, Derby, United Kingdom.
Alan PittmanMolecular and Clinical Sciences Institute, St George's University of London, London, United Kingdom.
Kristiana GordonMolecular and Clinical Sciences Institute, St George's University of London, London, United Kingdom.
Pia OstergaardMolecular and Clinical Sciences Institute, St George's University of London, London, United Kingdom.ORCID 0000-0002-2190-1356
St George's, University of London · GBUniversity Hospitals of Derby and Burton NHS Foundation Trust · GBUniversity of Cambridge · GBUniversity of Nottingham · GB

Funding

Department of HealthMedical Research Council MC_UU_12012/1Medical Research Council MRC_MC_UU_12012.1Wellcome Trust
6 · The paper itself

Abstract

Lipoedema is a chronic adipose tissue disorder mainly affecting women, causing excess subcutaneous fat deposition on the lower limbs with pain and tenderness. There is often a family history of lipoedema, suggesting a genetic origin, but the contribution of genetics is currently unclear. A tightly phenotyped cohort of 200 lipoedema patients was recruited from two UK specialist clinics. Objective clinical characteristics and measures of quality of life data were obtained. In an attempt to understand the genetic architecture of the disease better, genome-wide single nucleotide polymorphism (SNP) genotype data were obtained, and a genome wide association study (GWAS) was performed on 130 of the recruits. The analysis revealed genetic loci suggestively associated with the lipoedema phenotype, with further support provided by an independent cohort taken from the 100,000 Genomes Project. The top SNP rs1409440 (ORmeta ≈ 2.01, Pmeta ≈ 4 x 10-6) is located upstream of LHFPL6, which is thought to be involved with lipoma formation. Exactly how this relates to lipoedema is not yet understood. This first GWAS of a UK lipoedema cohort has identified genetic regions of suggestive association with the disease. Further replication of these findings in different populations is warranted.

Indexed as

Genome-Wide Association StudyLipedemaFemaleGenotypeHumansPolymorphism, Single NucleotideQuality of LifeUnited Kingdom

Identifiers

PMID36227936
PMCPMC9560129
OpenAlexW4305041693

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.