Evidence map›Paper›PMID 33315354›Full record

ArticleTurkish journal of medical sciences2021

MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever

Necati Çakır, Hülya Azaklı, Duran Üstek, Ömer Uysal, Eren Gözke

Open access · bronzeAbstract read
In one paragraph

Article in Turkish journal of medical sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 53% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Article
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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

5 authors at 3 institutions in 2 countries.

Necati ÇakırDepartment of Internal Medicine, Faculty of Medicine, Istanbul Medeniyet University, İstanbul, TurkeyORCID 0000-0002-9815-8177
Hülya AzaklıDepartment of Genetics, Institute for Experimental Medicine, İstanbul University, İstanbul, TurkeyORCID 0000-0001-6073-0724
Duran ÜstekDepartment of Genetics, Institute for Experimental Medicine, İstanbul University, İstanbul, TurkeyORCID 0000-0002-0060-2859
Ömer UysalDepartment of Statistics, University of Bezmialem, İstanbul, TurkeyORCID 0000-0002-8833-697X
Eren GözkeDepartment of Neurology, Fatih Sultan Mehmet Teaching and Research Hospital, University of Health Sciences, İstanbul, TurkeyORCID 0000-0001-6175-0647
Bezmiâlem Vakıf Üniversitesi · TRHUN-REN Institute of Experimental Medicine · HUSağlık Bilimleri Üniversitesi · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background/aim: Familial Mediterranean fever (FMF) is a genetically recessive autoinflammatory disease caused by mutations in the Mediterranean fever (MEFV) gene. The aim of this study was to investigate the frequencies of the most common MEFV mutations among a sample of healthy individuals from the Havsa population of European Turkey, where FMF is less prevalent compared to Asian Turkey. Materials and methods: The study group consisted of 263 unrelated healthy adults. All of the participants were analyzed for the M694V, V726A, M680I, and E148Q mutations in the MEFV gene. Results: In total, 25 of the 263 individuals carried MEFV mutations (9.5%). The observed allele frequencies were 1.5% for M694V (95% confidence interval [CI] 0.5-2.5), 2.6% for E148Q (95% CI 1.6-3.9), 0.5% for M680I (95% CI 0.0-1.1), and 0.0% for V726A. The frequencies of the M694V, M680I, and E148Q mutations were not significantly different from allele frequencies (approximately 20%) determined for other regions of Turkey where FMF is more prevalent. Conclusion: These data suggest that the positivity of the MEFV gene mutation tests have lower predictive value in a population with low FMF prevalence.

Indexed as

AdultFamilial Mediterranean FeverGene FrequencyHealthy VolunteersHumansMiddle AgedMutationMutation RatePredictive Value of TestsPrevalencePyrinTurkeyMEFV protein, humanPyrinFamilial Mediterranean feverMEFV genemutations

Identifiers

PMID33315354
PMCPMC8569729
OpenAlexW3116998281

What OpenQuestion holds

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Registered trials

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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.