Evidence map›Paper›PMID 39202369›Full record

ArticleGenes2024

Role of Selected Genetic Polymorphisms in the Development of Rheumatoid Arthritis in a British White Population.

Sarabjit Mastana, Ella Knight, Abigail Hampson, Liz Akam, David John Hunter, Anant Ghelani, Ash Samanta, Puneetpal Singh

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. 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.

Sarabjit MastanaSchool of Sport, Exercise and Health Sciences, Loughborough University, Loughborough LE11 3TU, UK.ORCID 0000-0002-9553-4886
Ella KnightSchool of Sport, Exercise and Health Sciences, Loughborough University, Loughborough LE11 3TU, UK.
Abigail HampsonSchool of Sport, Exercise and Health Sciences, Loughborough University, Loughborough LE11 3TU, UK.
Liz AkamSchool of Sport, Exercise and Health Sciences, Loughborough University, Loughborough LE11 3TU, UK.ORCID 0000-0002-8784-3742
David John HunterSchool of Sport, Exercise and Health Sciences, Loughborough University, Loughborough LE11 3TU, UK.ORCID 0000-0003-1060-3334
Anant GhelaniSchool of Sport, Exercise and Health Sciences, Loughborough University, Loughborough LE11 3TU, UK.
Ash SamantaRheumatology, University Hospitals of Leicester NHS Trust, Leicester LE1 5WW, UK.
Puneetpal SinghDepartment of Human Genetics, Punjabi University, Patiala 147002, India.ORCID 0000-0003-2154-4261

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRheumatoid arthritis (RA) is a complex autoimmune disease that negatively affects synovial joints, leading to the deterioration of movement and mobility of patients. This chronic disease is considered to have a strong genetic inheritance, with genome-wide association studies (GWAS) highlighting many genetic loci associated with the disease. Moreover, numerous confounding and non-genetic factors also contribute to the risk of the disease.

aimsThis study investigates the association of selected genetic polymorphisms with rheumatoid arthritis risk and develops a polygenic risk score (PRS) based on selected genes.

methodsA case-control study recruited fully consenting participants from the East Midlands region of the UK. DNA samples were genotyped for a range of polymorphisms and genetic associations were calculated under several inheritance models. PRS was calculated at crude (unweighted) and weighted levels, and its associations with clinical parameters were determined.

resultsThere were significant associations with the risk of RA at six genetic markers and their associated risk alleles (

conclusionSeveral genetic loci contribute to the increased risk of RA in the British White sample. The PRS is significantly higher in those with RA and can be used for clinical applications and personalised prevention of disease.

Indexed as

Arthritis, RheumatoidGenetic Predisposition to DiseasePolymorphism, Single NucleotideAdultAgedCase-Control StudiesFemaleGenome-Wide Association StudyHaplotypesHLA-DRB1 ChainsHumansMaleMiddle AgedMultifactorial InheritanceProtein Tyrosine Phosphatase, Non-Receptor Type 22Receptors, CalcitriolHLA-DRB1 ChainsProtein Tyrosine Phosphatase, Non-Receptor Type 22PTPN22 protein, humanReceptors, CalcitriolVDR protein, humanHLADRB1IL4590Polygenic Risk Score (PRS)PTPN22TNFαTRAF1

Identifiers

PMID39202369
PMCPMC11354150

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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.