Evidence map›Paper›PMID 36294757›Full record

ArticleJournal of personalized medicine2022

High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis.

Paola Tesolin, Francesca Eleonora Bertinetto, Arianna Sonaglia, Stefania Cappellani, Maria Pina Concas, Anna Morgan, Norma Maria Ferrero, Alen Zabotti, Paolo Gasparini, Antonio Amoroso and 2 more

Open access · goldAbstract read
In one paragraph

Article in Journal of personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.7field-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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. 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

12 authors at 4 institutions in 1 country.

Paola TesolinDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.ORCID 0000-0002-5238-6422
Francesca Eleonora BertinettoDepartment of Medical Sciences, University of Turin, and Immunogenetic and Transplant Biology Service, University Hospital "Città della Salute e della Scienza", 10124 Turin, Italy.
Arianna SonagliaDivision of Rheumatology, Department of Medicine (DAME), ASUFC, University of Udine, 33100 Udine, Italy.
Stefania CappellaniInstitute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34137 Trieste, Italy.
Maria Pina ConcasInstitute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34137 Trieste, Italy.ORCID 0000-0003-3598-2537
Anna MorganInstitute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34137 Trieste, Italy.ORCID 0000-0001-6290-445X
Norma Maria FerreroDepartment of Medical Sciences, University of Turin, and Immunogenetic and Transplant Biology Service, University Hospital "Città della Salute e della Scienza", 10124 Turin, Italy.
Alen ZabottiDivision of Rheumatology, Department of Medicine (DAME), ASUFC, University of Udine, 33100 Udine, Italy.ORCID 0000-0002-0573-464X
Paolo GaspariniDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.
Antonio AmorosoDepartment of Medical Sciences, University of Turin, and Immunogenetic and Transplant Biology Service, University Hospital "Città della Salute e della Scienza", 10124 Turin, Italy.ORCID 0000-0002-9437-9407
Luca QuartuccioDivision of Rheumatology, Department of Medicine (DAME), ASUFC, University of Udine, 33100 Udine, Italy.ORCID 0000-0002-0134-6439
Giorgia GirottoDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.ORCID 0000-0003-4507-6589
IRCCS Materno Infantile Burlo Garofolo · ITUniversity of Trieste · ITUniversity of Turin · ITUniversity of Udine · IT

Funding

to Giorgia Girotto D70-RESRICGIROTTO
6 · The paper itself

Abstract

Rheumatoid and psoriatic arthritis (RA and PsA) are inflammatory rheumatic disorders characterised by a multifactorial etiology. To date, the genetic contributions to the disease onset, severity and drug response are not clearly defined, and despite the development of novel targeted therapies, ~10% of patients still display poor treatment responses. We characterised a selected cohort of eleven non-responder patients aiming to define the genetic contribution to drug resistance. An accurate clinical examination of the patients was coupled with several high-throughput genetic testing, including HLA typing, SNPs-array and Whole Exome Sequencing (WES). The analyses revealed that all the subjects carry very rare HLA phenotypes which contain HLA alleles associated with RA development (e.g., HLA-DRB1*04, DRB1*10:01 and DRB1*01). Additionally, six patients also carry PsA risk alleles (e.g., HLA-B*27:02 and B*38:01). WES analysis and SNPs-array revealed 23 damaging variants with 18 novel "drug-resistance" RA/PsA candidate genes. Eight patients carry likely pathogenic variants within common genes (

Indexed as

HLA typingmulti-drug resistancepsoriatic arthritisrheumatoid arthritisSNPs-arraywhole-exome sequencing

Identifiers

PMID36294757
PMCPMC9605087
OpenAlexW4303832943

What Socratic 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 Socratic graph.