Evidence map›Paper›PMID 27888057›Full record

ArticleImmunology letters2017

Association between rs2294020 in X-linked CCDC22 and susceptibility to autoimmune diseases with focus on systemic lupus erythematosus.

Fabio D'Amico, Evangelia Skarmoutsou, Lauren J Lo, Mariagrazia Granata, Chiara Trovato, Giulio A Rossi, Chiara Bellocchi, Maurizio Marchini, Raffaella Scorza, Maria Clorinda Mazzarino and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Immunology letters, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.6field-weighted citation impact, top 25% 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

6 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Article
  3. Psoriasis and neurodegenerative diseases-a review.Frontiers in molecular neuroscience · 2022
    Review
  4. Review
  5. [Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020
    Article
  6. When the Lyon(ized chromosome) roars: ongoing expression from an inactive X chromosome.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017
    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

11 authors at 4 institutions in 2 countries.

Fabio D'AmicoDepartment of Biomedical and Biotechnological Sciences, University of Catania, Via Androne 83, I-95124 Catania, Italy. Electronic address: f.damico@unict.it.
Evangelia SkarmoutsouDepartment of Biomedical and Biotechnological Sciences, University of Catania, Via Androne 83, I-95124 Catania, Italy.
Lauren J LoDepartment of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA.
Mariagrazia GranataDepartment of Biomedical and Biotechnological Sciences, University of Catania, Via Androne 83, I-95124 Catania, Italy.
Chiara TrovatoDepartment of Biomedical and Biotechnological Sciences, University of Catania, Via Androne 83, I-95124 Catania, Italy.
Giulio A RossiDepartment of Biomedical and Biotechnological Sciences, University of Catania, Via Androne 83, I-95124 Catania, Italy.
Chiara BellocchiReferral Center for Systemic Autoimmune Diseases, University of Milan and Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Via Pace 9, I-20122 Milan, Italy.
Maurizio MarchiniReferral Center for Systemic Autoimmune Diseases, University of Milan and Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Via Pace 9, I-20122 Milan, Italy.
Raffaella ScorzaReferral Center for Systemic Autoimmune Diseases, University of Milan and Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Via Pace 9, I-20122 Milan, Italy.
Maria Clorinda MazzarinoDepartment of Biomedical and Biotechnological Sciences, University of Catania, Via Androne 83, I-95124 Catania, Italy.
Alon KeinanDepartment of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA.
University of Catania · ITCornell University · USUniversity of Milan · ITOspedale Maggiore · IT

Funding

The X-factor of complex disease: From population genetics to GWAS of Chromosome XR01HG006849 · NHGRI · CORNELL UNIVERSITY · PI CLARK, ANDREW G · 2013 to 2020
$2.3M
NHGRI NIH HHS R01 HG006849Wellcome Trust
6 · The paper itself

Abstract

Autoimmune diseases often share common susceptibility genes. Most genetic variants associated with susceptibility to systemic lupus erythematosus are also associated with other autoimmune diseases. The X-linked variant rs2294020 is positioned in exon 7 of the CCDC22 gene. The encoded protein functions in the regulation of NF-κB, a master regulator in immune response. The aim of this study is to investigate whether the rs2294020 polymorphism may be a general susceptibility factor for autoimmunity. We evaluated case-control association between the occurrence of rs2294020 and different autoimmune diseases, including new data for systemic lupus erythematosus and previous genome-wide association studies (GWAS) (though most did not analyse the X chromosome) of psoriasis, celiac disease, Crohn's disease, ulcerative colitis, multiple sclerosis, vitiligo, type-1 diabetes, rheumatoid arthritis, and ankylosing spondylitis. Cases from patients affected by amyotrophic lateral sclerosis and type-2 diabetes were also included in the study. We detected nominal significant associations of rs2294020 with systemic lupus erythematosus (additive model test: p=0.01), vitiligo (p=0.016), psoriasis (p=0.038), and in only one of two studies of multiple sclerosis (p=0.03). Our results suggest that rs2294020 is associated with the risk of several autoimmune diseases in European populations, specifically with diseases that present themselves, among else, in the skin.

Indexed as

AllelesGenes, X-LinkedGenetic Association StudiesGenetic Predisposition to DiseaseAdultAutoimmune DiseasesCase-Control StudiesExonsFemaleGenotypeHumansLupus Erythematosus, SystemicMaleOdds RatioPhenotypePolymorphism, Single NucleotideCCDC22 protein, humanProteinsAutoimmune diseaseCCDC22 geneFOXP3 geneSingle nucleotide polymorphismSystemic lupus erythematosus

Identifiers

PMID27888057
PMCPMC5222889
OpenAlexW2560831269

What OpenQuestion holds

Textmetadata
LicenceTDM
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.