Evidence map›Paper›PMID 39835539›Full record

ArticleImmunology2025

TYK2 :p.Pro1104Ala Variant Protects Against Autoimmunity by Modulating Immune Cell Levels.

Maristella Steri, Valeria Orrù, Carlo Sidore, Antonella Mulas, Maristella Pitzalis, Fabio Busonero, Andrea Maschio, Valentina Serra, Mariano Dei, Sandra Lai and 14 more

Abstract read
In one paragraph

Article in Immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. How Genomic and Structural Context Could Shape JAK-STAT Variant Pathogenicity.Twin research and human genetics : the official journal of the International Society for Twin Studies · 2026
    Article
  3. 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

24 authors.

Maristella SteriInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Valeria OrrùInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Carlo SidoreInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Antonella MulasInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.ORCID 0000-0002-6856-1483
Maristella PitzalisInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Fabio BusoneroInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Andrea MaschioInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Valentina SerraInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Mariano DeiInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Sandra LaiInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Francesca VirdisInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Monia LobinaInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Annalisa LoizeddaInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Michele MarongiuInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Marco MasalaInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Matteo FlorisDepartment of Biomedical Sciences, University of Sassari, Sassari, Italy.
Nicolò CurreliInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Lenuta BalaciInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Francesco LoiInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Maria Grazia PiliaInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
Alessandro DelitalaDepartment of Medicine, Surgery and Pharmacy, University of Sassari, Sassari, Italy.
Edoardo FiorilloInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.
David SchlessingerLaboratory of Genetics and Genomics, National Institute on Aging (NIA), National Institutes of Health (NIH), Baltimore, Maryland, USA.
Magdalena ZoledziewskaInstitute of Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR), Monserrato, Sardinia, Italy.ORCID 0000-0002-3033-6133

Funding

GENETIC AND EPIDEMIOLOGICAL FACTORS FOR AGE-RELATED TRAITS AND DISEASES IN THE SARDINIAN POPULATION (SARDINIA5); PERIOD OF PERFORMANCE: JUNE 1, 2021 -75N95021C00012 · NIA · ISTITUTO DI RICERCA GENETICA E BIOMEDICA IRGB CNR · PI FIORILLO, EDOARDO · 2021 to 2021
$11.4M
financed or co-financed with the '5 per mille' public fundingFondazione Italiana Sclerosi Multipla (FISM) 2019/S/03NIDA NIH HHS 75N95021C00012NIDA NIH HHS HHSN271201100005C
6 · The paper itself

Abstract

The TYK2:p.Pro1104Ala (rs34536443) hypomorph variant has been associated with protection against numerous autoimmune disorders. Thus, its mechanism of action becomes of great interest. Here, consistent with the participation of activated immune cells in autoimmunity, we show that the variant regulates the levels of immune cells at a human, general population level and is associated particularly with higher levels of T and B lymphocytes, especially the naïve (non-activated) compartment. Also, consistent with a protective function in autoimmunity, the level of regulatory CD4+ T cells was increased. Thus, this variant decreases immune activation thereby protecting from autoimmunity. Our work links the cellular mechanism regulated by the TYK2:p.Pro1104Ala variant to autoimmunity protection and supports TYK2 as a therapeutic target in autoimmunity.

Indexed as

Autoimmune DiseasesAutoimmunityB-LymphocytesTYK2 KinaseFemaleHumansLymphocyte ActivationMaleTYK2 KinaseTYK2 protein, humanautoimmunityimmune cell levelsimmunophenotypingnaïve cellsTYK2

Identifiers

PMID39835539
PMCPMC11885862

What OpenQuestion holds

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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.