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

Authors: Celik, S  Oktenli, C  Kilicaslan, E  Tangi, F  Sayan, O  Ozari, HO  Ipcioglu, O  Sanisoglu, YS  Terekeci, MH  Erikci, AA 
Citation: Celik S, etal., Int J Hematol. 2012 Mar;95(3):285-90. doi: 10.1007/s12185-012-1022-0. Epub 2012 Feb 18.
Pubmed: (View Article at PubMed) PMID:22351163
DOI: Full-text: DOI:10.1007/s12185-012-1022-0

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 (chi(2) = 4.241; P = 0.039) and AML (chi(2) = 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.


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CRRD Object Information
CRRD ID: 11531114
Created: 2016-08-26
Species: All species
Last Modified: 2016-08-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.