Evidence map›Paper›PMID 30216441›Full record

ArticleImmunology2019

Screening the full leucocyte receptor complex genomic region revealed associations with pemphigus that might be explained by gene regulation.

Ticiana Della Justina Farias, Danillo G Augusto, Rodrigo Coutinho de Almeida, Danielle Malheiros, Maria Luiza Petzl-Erler

Open access · bronzeAbstract read
In one paragraph

Article in Immunology, 2019. 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
1.0field-weighted citation impact, top 24% 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, 17 citations in OpenAlex.

  1. Article
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  7. The Immunogenetics of Autoimmune Blistering Diseases.Advances in experimental medicine and biology · 2022
    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

5 authors at 3 institutions in 2 countries.

Ticiana Della Justina FariasLaboratory of Human Molecular Genetics, Department of Genetics, Federal University of Paraná, Curitiba, Brazil.ORCID 0000-0002-3606-2428
Danillo G AugustoLaboratory of Human Molecular Genetics, Department of Genetics, Federal University of Paraná, Curitiba, Brazil.
Rodrigo Coutinho de AlmeidaDepartment of Biomedical Data Sciences, Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.
Danielle MalheirosLaboratory of Human Molecular Genetics, Department of Genetics, Federal University of Paraná, Curitiba, Brazil.
Maria Luiza Petzl-ErlerLaboratory of Human Molecular Genetics, Department of Genetics, Federal University of Paraná, Curitiba, Brazil.ORCID 0000-0002-0345-5276
Universidade Federal do Paraná · BRLeiden University Medical Center · NLUniversidade Estadual de Santa Cruz · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pemphigus foliaceus (PF) is a blistering autoimmune skin disease rare in most of the world but endemic in certain regions of Brazil. PF is characterized by the detachment of epidermal cells and the presence of autoantibodies against desmoglein 1. In previous studies, we have shown that genetic polymorphisms and variable expression levels of certain leucocyte receptor complex (LRC) genes were associated with PF. However, the role of the LRC on PF susceptibility remained to be investigated. Here, we analysed 527 tag single nucleotide polymorphisms (SNPs) distributed within the 1·5 Mb LRC. After quality control, a total of 176 SNPs were analysed in 229 patients with PF and 194 controls. Three SNPs were associated with differential susceptibility to PF. The intergenic variant rs465169 [odds ratio (OR) = 1·50; P = 0·004] is located in a region that might regulate several immune-related genes, including VSTM1, LILRB1/2, LAIR1/2, LILRA3/4 and LENG8. The rs35336528 (OR = 3·44; P = 0·009) and rs1865097 (OR = 0·57; P = 0·005) SNPs in LENG8 and FCAR genes, respectively, were also associated with PF. Moreover, we found four haplotypes with SNPs within the KIR3DL2/3, LAIR2 and LILRB1 genes associated with PF (P < 0·05), which corroborate previously reported associations. Thus, our results confirm the importance of the LRC for differential susceptibility to PF and reveal new markers that might influence expression levels of several LRC genes, as well as candidates for further functional studies.

Indexed as

GenotypeAutoantibodiesBrazilDesmoglein 1DNA, IntergenicGene Expression RegulationGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseHumansLeukocytesPemphigusPolymorphism, Single NucleotideReceptors, ImmunologicTissue Array AnalysisAutoantibodiesDesmoglein 1DNA, IntergenicLAIR-2 receptorReceptors, Immunologic19q13.42FCARLENG8LRCpemphigus foliaceusrs465169

Identifiers

PMID30216441
PMCPMC6283660
OpenAlexW2889996238

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Registered trials

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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.