Evidence map›Paper›PMID 38980841›Full record

ArticlePLoS genetics2024

Exome sequencing identifies novel genetic variants associated with varicose veins.

Dan-Dan Zhang, Xiao-Yu He, Liu Yang, Bang-Sheng Wu, Yan Fu, Wei-Shi Liu, Yu Guo, Chen-Jie Fei, Ju-Jiao Kang, Jian-Feng Feng and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in PLoS genetics, 2024. 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. Review
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  3. Open biology · 2025
    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

13 authors.

Dan-Dan ZhangDepartment of Neurology, Qingdao Municipal Hospital, Qingdao University, Qingdao, China.
Xiao-Yu HeDepartment of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.
Liu YangDepartment of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.
Bang-Sheng WuDepartment of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.
Yan FuDepartment of Neurology, Qingdao Municipal Hospital, Qingdao University, Qingdao, China.
Wei-Shi LiuDepartment of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.
Yu GuoDepartment of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.
Chen-Jie FeiDepartment of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.
Ju-Jiao KangInstitute of Science and Technology for Brain-inspired Intelligence, Fudan University, Shanghai, China.
Jian-Feng FengInstitute of Science and Technology for Brain-inspired Intelligence, Fudan University, Shanghai, China.
Wei ChengDepartment of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.
Lan TanDepartment of Neurology, Qingdao Municipal Hospital, Qingdao University, Qingdao, China.
Jin-Tai YuDepartment of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.ORCID https://orcid.org/0000-0002-7686-0547

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVaricose veins (VV) are one of the common human diseases, but the role of genetics in its development is not fully understood.

methodsWe conducted an exome-wide association study of VV using whole-exome sequencing data from the UK Biobank, and focused on common and rare variants using single-variant association analysis and gene-level collapsing analysis.

findingsA total of 13,823,269 autosomal genetic variants were obtained after quality control. We identified 36 VV-related independent common variants mapping to 34 genes by single-variant analysis and three rare variant genes (PIEZO1, ECE1, FBLN7) by collapsing analysis, and most associations between genes and VV were replicated in FinnGen. PIEZO1 was the closest gene associated with VV (P = 5.05 × 10-31), and it was found to reach exome-wide significance in both single-variant and collapsing analyses. Two novel rare variant genes (ECE1 and METTL21A) associated with VV were identified, of which METTL21A was associated only with females. The pleiotropic effects of VV-related genes suggested that body size, inflammation, and pulmonary function are strongly associated with the development of VV.

conclusionsOur findings highlight the importance of causal genes for VV and provide new directions for treatment.

Indexed as

ExomeExome SequencingGenetic Predisposition to DiseaseGenome-Wide Association StudyVaricose VeinsAdultEndothelin-Converting EnzymesFemaleGenetic VariationHumansIon ChannelsMaleMiddle AgedPolymorphism, Single NucleotideECE1 protein, humanEndothelin-Converting EnzymesIon ChannelsPIEZO1 protein, human

Identifiers

PMID38980841
PMCPMC11233024

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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.