Evidence map›Paper›PMID 22351163›Full record

ArticleInternational journal of hematology2012

Frequency of inherited variants in the MEFV gene in myelodysplastic syndrome and acute myeloid leukemia.

Serkan Celik, Cagatay Oktenli, Emrah Kilicaslan, Fatih Tangi, Ozkan Sayan, H Onur Ozari, Osman Ipcioglu, Yavuz S Sanisoglu, M Hakan Terekeci, Alev A Erikci

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Article in International journal of hematology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-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, 9 citations in OpenAlex.

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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

10 authors at 3 institutions in 1 country.

Serkan CelikDivision of Internal Medicine, GATA Haydarpasa Training Hospital, Istanbul, Turkey.
Cagatay Oktenli
Emrah Kilicaslan
Fatih Tangi
Ozkan Sayan
H Onur Ozari
Osman Ipcioglu
Yavuz S Sanisoglu
M Hakan Terekeci
Alev A Erikci
GATA Haydarpaşa Eğitim Hastanesi · TRAnadolu University · TRAnkara Yıldırım Beyazıt University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We investigated the frequency of inherited variants in the MEFV gene, which is mutated in familial Mediterranean fever (FMF), in patients with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P369S) were analyzed in 33 MDS patients, 47 AML patients and 65 healthy controls; none had a history or family history compatible with FMF. We identified two homozygous (E148Q/E148Q), one compound heterozygous (M694V/E148Q) and five heterozygous inherited variants in the MEFV gene in AML patients. We also identified nine heterozygous variants in MDS patients, while we found 11 heterozygous variants in controls. The mean overall frequency of inherited variants in the MEFV gene rate was higher in MDS (χ² = 4.241; P = 0.039) and AML (χ² = 3.870; P = 0.043) patients than in healthy controls. In conclusion, this study reports high frequency of inherited variants in the MEFV gene in patients with MDS and AML. However, the hypothesis that MEFV is a cancer susceptibility gene at this point remains speculative. Additional evidence from future studies is needed to allow a more thorough evaluation of this hypothesis.

Indexed as

Gene FrequencyMutationAdultAgedAged, 80 and overCytoskeletal ProteinsFemaleGenetic Predisposition to DiseaseGenotypeHumansLeukemia, Myeloid, AcuteMaleMiddle AgedMyelodysplastic SyndromesPyrinYoung AdultCytoskeletal ProteinsMEFV protein, humanPyrin

Identifiers

PMID22351163
OpenAlexW1999615414

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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.