Evidence map›Paper›PMID 32426878›Full record

ArticleJournal of clinical laboratory analysis2020

Analysis of the autoimmune regulator (AIRE) gene variant rs2075876 (G/A) association with breast cancer susceptibility.

Manal S Fawzy, Eman A Toraih

Open access · goldAbstract read
In one paragraph

Article in Journal of clinical laboratory analysis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 32% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. Pooled it
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  3. Article
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  5. 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

2 authors at 1 institution in 3 countries.

Manal S FawzyDepartment of Biochemistry, Faculty of Medicine, Northern Border University, Arar, Saudi Arabia.ORCID https://orcid.org/0000-0003-1252-8403
Eman A ToraihDepartment of Surgery, School of Medicine, Tulane University, New Orleans, Louisiana, USA.ORCID https://orcid.org/0000-0001-9267-3787
Suez Canal University · EG

Funding

The Deanship of Scientific Research, Northern Border University MED-2018-3-9-F-7821
6 · The paper itself

Abstract

backgroundRecently, unexpected autoimmune regulator (AIRE) implication in the scenario of several cancers, including breast cancer (BC), has emerged. This study aims to explore for the first time the possible association between AIRE gene rs2075876 G>A variant and BC risk in a sample of the Middle East population.

methodIn this case-control study, we genotyped AIRE rs2075876 G>A variant in 200 unrelated patients with BC and 340 cancer-free controls using a real-time allelic discrimination polymerase chain reaction. Odds ratios (ORs) and 95% confidence intervals (CIs) were applied to estimate the strength of association under several genetic models. In silico analysis of AIRE was also executed.

resultsThe minor allele (A) frequency of the specified variant accounted for 0.28 in the controls. G/G homozygote was significantly more frequent among patients (94%) compared to controls (66%) (P < .001). After adjusting confounding variables, individuals with A allele conferred protection against developing BC under allelic model (OR = 0.33, 95% CI = 0.20-0.55), recessive model (OR = 0.25, 95% CI = 0.10-0.60), dominant model (OR = 0.12, 95% CI = 0.05-0.29), and homozygote comparison (OR = 0.20, 95% CI = 0.08-0.50). In silico analysis revealed AIRE enrichment in several cancer-related pathways. Kaplan-Meier plotter for the cancer databases showed association of AIRE expression with prognosis in triple-negative BC (HR = 2.44, 95% CI = 1.44-4.15, log-rank P-value < .001).

conclusionThe AIRE rs2075876 G>A variant showed association with BC risk in the study population. Further large-scale replication studies in different ethnicity are warranted to confirm the findings.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideAIRE ProteinBiomarkers, TumorBreast NeoplasmsCase-Control StudiesFemaleFollow-Up StudiesHumansMiddle AgedPrognosisSurvival RateTranscription FactorsAIRE ProteinBiomarkers, TumorTranscription FactorsAIREBreast cancerreal-time genotypingsingle nucleotide polymorphism

Identifiers

PMID32426878
PMCPMC7521301
OpenAlexW3026449126

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.