Evidence map›Paper›PMID 37884686›Full record

ArticleNature genetics2023

Effects of psoriasis and psoralen exposure on the somatic mutation landscape of the skin.

Sigurgeir Olafsson, Elke Rodriguez, Andrew R J Lawson, Federico Abascal, Axel Rosendahl Huber, Melike Suembuel, Philip H Jones, Sascha Gerdes, Iñigo Martincorena, Stephan Weidinger and 2 more

Open access · hybridAbstract read
In one paragraph

Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
5.1field-weighted citation impact, top 4% 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

12 citing papers in PubMed, 18 citations in OpenAlex.

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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

12 authors at 3 institutions in 3 countries.

Sigurgeir OlafssonWellcome Sanger Institute, Hinxton, UK.
Elke RodriguezDepartment of Dermatology and Allergy, University Hospital Schleswig-Holstein, Kiel, Germany.ORCID 0000-0003-3692-3950
Andrew R J LawsonWellcome Sanger Institute, Hinxton, UK.ORCID 0000-0003-3592-1005
Federico AbascalWellcome Sanger Institute, Hinxton, UK.ORCID 0000-0002-6201-1587
Axel Rosendahl HuberInstitute for Research in Biomedicine, Barcelona, Spain.
Melike SuembuelDepartment of Dermatology and Allergy, University Hospital Schleswig-Holstein, Kiel, Germany.
Philip H JonesWellcome Sanger Institute, Hinxton, UK.ORCID 0000-0002-5904-795X
Sascha GerdesDepartment of Dermatology and Allergy, University Hospital Schleswig-Holstein, Kiel, Germany.
Iñigo MartincorenaWellcome Sanger Institute, Hinxton, UK.ORCID 0000-0003-1122-4416
Stephan WeidingerDepartment of Dermatology and Allergy, University Hospital Schleswig-Holstein, Kiel, Germany.
Peter J CampbellWellcome Sanger Institute, Hinxton, UK.ORCID 0000-0002-3921-0510
Carl A AndersonWellcome Sanger Institute, Hinxton, UK. carl.anderson@sanger.ac.uk.ORCID 0000-0003-1719-7009
Wellcome Sanger Institute · GBUniversity Hospital Schleswig-Holstein · DEInstitute for Research in Biomedicine · ES

Funding

Cancer Research UK 21777Wellcome TrustWellcome Trust 206194
6 · The paper itself

Abstract

Somatic mutations are hypothesized to play a role in many non-neoplastic diseases. We performed whole-exome sequencing of 1,182 microbiopsies dissected from lesional and nonlesional epidermis from 111 patients with psoriasis to search for evidence that somatic mutations in keratinocytes may influence the disease process. Lesional skin remained highly polyclonal, showing no evidence of large-scale spread of clones carrying potentially pathogenic mutations. The mutation rate of keratinocytes was similarly only modestly affected by the disease. We found evidence of positive selection in previously reported driver genes NOTCH1, NOTCH2, TP53, FAT1 and PPM1D and also identified mutations in four genes (GXYLT1, CHEK2, ZFP36L2 and EEF1A1) that we hypothesize are selected for in squamous epithelium irrespective of disease status. Finally, we describe a mutational signature of psoralens-a class of chemicals previously found in some sunscreens and which are used as part of PUVA (psoralens and ultraviolet-A) photochemotherapy treatment for psoriasis.

Indexed as

FurocoumarinsPsoriasisFicusinHumansMutationPUVA TherapyFicusinFurocoumarins

Identifiers

PMID37884686
PMCPMC10632143
OpenAlexW4387966114

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.