Evidence map›Paper›PMID 29543225›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018

Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever.

Gernot Kriegshäuser, Dietmar Enko, Hasmik Hayrapetyan, Stepan Atoyan, Christian Oberkanins, Tamara Sarkisian

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In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.6field-weighted citation impact, top 33% 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

9 citing papers in PubMed, 21 citations in OpenAlex.

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  5. Comparison of Clinical and Genetic Characteristics of Familial Mediterranean Fever Patients Among Adult Age Groups.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2024
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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

6 authors at 3 institutions in 2 countries.

Gernot KriegshäuserInstitute of Clinical Chemistry and Laboratory Medicine, General Hospital Steyr, Steyr, Austria. gernot.kriegshaeuser@gespag.at.
Dietmar EnkoInstitute of Clinical Chemistry and Laboratory Medicine, General Hospital Steyr, Steyr, Austria.
Hasmik HayrapetyanCenter of Medical Genetics and Primary Health Care, Yerevan, Armenia.
Stepan AtoyanCenter of Medical Genetics and Primary Health Care, Yerevan, Armenia.
Christian OberkaninsViennaLab Diagnostics, Vienna, Austria.
Tamara SarkisianCenter of Medical Genetics and Primary Health Care, Yerevan, Armenia.
Medical University of Graz · ATYerevan State Medical University · AMCenter of Medical Genetics and Primary Health Care · AM

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThis work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean fever (FMF) attack at age ≥40 years in a very large cohort of Armenian FMF patients.

methodsIn total, 10,370 Armenian patients diagnosed with FMF based on the Tel Hashomer criteria and carrying at least one MEFV mutant allele were included in this study.

resultsA total of 354 (3.40%) patients had late-onset FMF. Of these, 194 (54.80%) were female and 160 (45.20%) were male. The following genotypes were significantly associated with the late-onset variant: M680I/E148Q (P = 0.004), M694V/E148Q (P < 0.001), and V726A/V726A (P< 0.001). Of note, 12/354 (3.40%) patients were found to be homozygous for the M694V mutation. Individuals with late-onset FMF had a milder disease phenotype presenting significantly less frequent fever, skin manifestation, and chest pain compared to individuals with a disease onset before 40 years of age. Abdominal pain was found more often in the late-onset FMF group, whereas arthritis, proteinuria, and amyloidosis did not differ significantly between the two groups.

conclusionOur data suggest that late-onset FMF is more prevalent in women and is of greater clinical as well as genetic heterogeneity than previously reported.

Indexed as

Genetic HeterogeneityGenetic Predisposition to DiseaseAdultAgedArmeniaFamilial Mediterranean FeverFemaleGenotypeHumansMaleMiddle AgedMutationPhenotypePyrinMEFV protein, humanPyrindisease phenotypefamilial Mediterranean feverlate onsetMEFV mutation

Identifiers

PMID29543225
OpenAlexW2789740970

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.