Evidence map›Paper›PMID 32752121›Full record

ArticleInternational journal of molecular sciences2020

Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.

Bogusław Nedoszytko, Marta Sobalska-Kwapis, Dominik Strapagiel, Magdalena Lange, Aleksandra Górska, Joanne N G Oude Elberink, Jasper van Doormaal, Marcin Słomka, Leszek Kalinowski, Marta Gruchała-Niedoszytko and 3 more

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.8field-weighted citation impact, top 29% 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

8 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. International journal of molecular sciences · 2023
    Review
  5. Article
  6. Article
  7. Effects of Primary Mast Cell Disease on Hemostasis and Erythropoiesis.International journal of molecular sciences · 2021
    Review
  8. Article
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 at 5 institutions in 3 countries.

Bogusław NedoszytkoDepartment of Dermatology, Venerology and Allergology, Medical University of Gdansk, 80-211 Gdansk, Poland.
Marta Sobalska-KwapisBiobank Laboratory, Department of Molecular Biophysics, Faculty of Biology and Environmental Protection, University of Lodz, 90-237 Lodz, Poland.
Dominik StrapagielBiobank Laboratory, Department of Molecular Biophysics, Faculty of Biology and Environmental Protection, University of Lodz, 90-237 Lodz, Poland.ORCID 0000-0001-9752-4270
Magdalena LangeDepartment of Dermatology, Venerology and Allergology, Medical University of Gdansk, 80-211 Gdansk, Poland.
Aleksandra GórskaDepartment of Allergology, Medical University of Gdansk, 80-211 Gdansk, Poland.
Joanne N G Oude ElberinkDepartment of Allergology, Internal Medicine, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.ORCID 0000-0003-2844-2196
Jasper van DoormaalDepartment of Allergology, Internal Medicine, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.
Marcin SłomkaBiobank Laboratory, Department of Molecular Biophysics, Faculty of Biology and Environmental Protection, University of Lodz, 90-237 Lodz, Poland.
Leszek KalinowskiBiobanking & Molecular Biotechnologies Resources Infrastructures Poland (BBMRI.pl) Consortium, 50-367 Wrocław, Poland.
Marta Gruchała-NiedoszytkoDepartment of Clinical Nutrition, Medical University of Gdansk, 80-211 Gdansk, Poland.
Roman J NowickiDepartment of Dermatology, Venerology and Allergology, Medical University of Gdansk, 80-211 Gdansk, Poland.ORCID 0000-0003-4768-1387
Peter ValentDivision of Hematology and Hemostaseology, Department of Internal Medicine I, Medical University of Vienna, 18-20 Vienna, Austria.ORCID 0000-0003-0456-5095
Marek NiedoszytkoDepartment of Allergology, Medical University of Gdansk, 80-211 Gdansk, Poland.
Gdańsk Medical University · PLUniversity of Łódź · PLUniversity Medical Center Groningen · NLGdańsk University of Technology · PLMedical University of Vienna · AT

Funding

Austrian Science Fund (FWF) P32470, F4701-B20 and F4704-B20Austrian Science Fund FWF P 32470Polish Ministry of Science DIR/WK/2017/01Polish Ministry of Sciences and Education ST 02-0066/07/253 and ST 02-0141/07/231Popoulous collection founded by European Regional Development Fund POIG Grant 01.01.02-10-005/08 TESTOPLEK
6 · The paper itself

Abstract

Mastocytosis is rare disease in which genetic predisposition is not fully understood. The aim of this study was to analyze associations between mastocytosis and single nucleotide polymorphisms (SNPs) by a genome-wide association study (GWAS) approach. A total of 234 patients were enrolled in our study, including 141 with cutaneous mastocytosis (CM; 78 children and 63 adults) and 93 with systemic mastocytosis (SM, all adults). The control group consisted of 5606 healthy individuals. DNA samples from saliva or blood were genotyped for 551 945 variants using DNA microarrays. The prevalence of certain SNPs was found to vary substantially when comparing patients and healthy controls: rs10838094 of

Indexed as

Genetic Predisposition to DiseaseAdolescentAdultAgedATP-Binding Cassette TransportersCytochrome P-450 CYP2B6FemaleGenome-Wide Association StudyGenotypeHumansMaleMastocytosisMiddle AgedOligonucleotide Array Sequence AnalysisOtx Transcription FactorsPolymorphism, Single NucleotideABCA2 protein, humanATP-Binding Cassette TransportersCytochrome P-450 CYP2B6KIT protein, humanOTX2 protein, humanOtx Transcription FactorsProto-Oncogene Proteins c-kitRNA, Long NoncodingRPTN protein, humanS100 Proteinsgene polymorphismsKITprognosticationtryptase

Identifiers

PMID32752121
PMCPMC7432708
OpenAlexW3046642047

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.