Evidence map›Paper›PMID 37430141›Full record

SynthesisCommunications biology2023

Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria.

Ragnar P Kristjansson, Gudjon R Oskarsson, Astros Skuladottir, Asmundur Oddsson, Solvi Rognvaldsson, Gardar Sveinbjornsson, Sigrun H Lund, Brynjar O Jensson, Edda L Styrmisdottir, Gisli H Halldorsson and 27 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Communications biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.5field-weighted citation impact, top 17% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. TThe Journal of allergy and clinical immunology · 2024
    Review
  3. Mast cell activation syndrome: Current understanding and research needs.The Journal of allergy and clinical immunology · 2024
    Review
  4. Identification of key genes and molecular mechanisms of chronic urticaria based on bioinformatics.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2024
    Article
  5. Review
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

37 authors at 4 institutions in 2 countries.

Ragnar P Kristjansson *deCODE genetics/Amgen Inc., Reykjavik, Iceland.
Gudjon R Oskarsson *deCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-1842-8799
Astros SkuladottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-5048-0933
Asmundur OddssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-4606-5163
Solvi RognvaldssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-4376-3361
Gardar SveinbjornssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0003-2429-9468
Sigrun H LunddeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-3806-2296
Brynjar O JenssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-2252-4134
Edda L StyrmisdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Gisli H HalldorssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-7067-9862
Egil FerkingstaddeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-8090-7988
Grimur Hjorleifsson EldjarndeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Doruk BeyterdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-3644-5760
Snædis KristmundsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-8981-0883
Kristinn JuliussondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Run FridriksdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Gudny A ArnadottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-6571-423X
Hildigunnur KatrinardottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Margret H SnorradottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Vinicius TragantedeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-8223-8957
Lilja StefansdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Erna V IvarsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-2069-0681
Gyda BjornsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-8100-0306
Bjarni V HalldorssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0003-0756-0767
Gudmar ThorleifssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0003-4623-9087
Bjorn R LudvikssonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Pall T OnundarsonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Saedis SaevarsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-9392-6184
Pall MelsteddeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Gudmundur L NorddahldeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Unnur S BjornsdottirDepartment of Medicine, Landspitali, the National University Hospital of Iceland, Reykjavik, Iceland.
Thorunn OlafsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-5454-938X
Daniel F GudbjartssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-5222-9857
Unnur ThorsteinsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Ingileif JonsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-8339-150X
Patrick SulemdeCODE genetics/Amgen Inc., Reykjavik, Iceland. patrick.sulem@decode.is.ORCID 0000-0001-7123-6123
Kari StefanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland. kstefans@decode.is.ORCID 0000-0003-1676-864X
deCODE Genetics (Iceland) · ISReykjavík University · ISUniversity of Iceland · ISNational University Hospital of Iceland · IS

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Urticaria is a skin disorder characterized by outbreaks of raised pruritic wheals. In order to identify sequence variants associated with urticaria, we performed a meta-analysis of genome-wide association studies for urticaria with a total of 40,694 cases and 1,230,001 controls from Iceland, the UK, Finland, and Japan. We also performed transcriptome- and proteome-wide analyses in Iceland and the UK. We found nine sequence variants at nine loci associating with urticaria. The variants are at genes participating in type 2 immune responses and/or mast cell biology (CBLB, FCER1A, GCSAML, STAT6, TPSD1, ZFPM1), the innate immunity (C4), and NF-κB signaling. The most significant association was observed for the splice-donor variant rs56043070[A] (hg38: chr1:247556467) in GCSAML (MAF = 6.6%, OR = 1.24 (95%CI: 1.20-1.28), P-value = 3.6 × 10

Indexed as

Genome-Wide Association StudyUrticariaHumansMast CellsProteomeRNA SplicingProteome

Identifiers

PMID37430141
PMCPMC10333346
OpenAlexW4383820292

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.