Evidence map›Paper›PMID 41327031›Full record

ArticleBMC genomics2025

Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.

Lothar Hennighausen, Teemu Haikarainen, Sung-Gwon Lee, Yasemin Caf, Priscilla A Furth, Olli Silvennoinen, Hye Kyung Lee, Ludwig Knabl

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

8 authors.

Lothar HennighausenNational Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, 20892, USA. lotharh@nih.gov.
Teemu HaikarainenFaculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Sung-Gwon LeeNational Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.
Yasemin CafY2L2Science GmbH, Hauptplatz 4, Zams, 6511, Austria.
Priscilla A FurthNational Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.
Olli SilvennoinenFaculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Hye Kyung LeeNational Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, 20892, USA. hyekyung.lee@nih.gov.
Ludwig KnablY2L2Science GmbH, Hauptplatz 4, Zams, 6511, Austria. ludwig.knabl@y2l2science.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The impact of most missense variants in immune regulatory genes on steady-state immune transcriptome expression in healthy individuals in real-world conditions remains largely unexplored. Here, we investigated the transcriptional impact of 21 germline variants in JAK, TYK2, and STAT family genes identified within a healthy Austrian alpine cohort. Of the 98 participants 35 carried only one variant and 32 carried two or more variants. Allele frequencies (AF) of these germline mutations, based on the gnomAD and All of Us databases, ranged from approximately 10

Indexed as

Germ-Line MutationJanus KinasesSTAT Transcription FactorsTranscription, GeneticTYK2 KinaseAdultAustriaFemaleGene FrequencyHumansMaleJanus KinasesSTAT Transcription FactorsTYK2 KinaseTYK2 protein, humanAlphaFold predicted protein structureImmune regulatory genesIn Silico prediction toolsJAK/STAT genesMissense variants

Identifiers

PMID41327031
PMCPMC12771743

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.