Arthritis & Rheumatism, Volume 63,
November 2011 Abstract Supplement

Abstracts of the American College of
Rheumatology/Association of Rheumatology Health Professionals
Annual Scientific Meeting
Chicago, Illinois November 4-9, 2011.

Four Novel MEFV Gene Mutations in a Population Where the Prevalence of Crimean-Congo Hemorrhagic Fever and MEFV Gene Carrier Status Is Very High.

Ozgon1,  Gulay, Engin2,  Aynur, Hatemi3,  Gulen, Ugurlu3,  Serdal, Akyayla1,  Elif, Bakir2,  Mehmet, Ozdogan3,  Huri

Nesiller Genetic Lab, Istanbul, Turkey
MD, Department of of Infectious Diseases, Medical Faculty, University of Cumhuriyet, Sivas, Turkey
MD, Division of Rheumatology, Department of Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey


Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne disease caused by an arbovirus in the family Bunyaviridae, which is associated with high mortality. CCHF is common in mid Anatolia where FMF is also very prevalent (1.2%), thus MEFV gene carrier status is very high (44%).To test our hypothesis that a selective biological advantage obtained by a carrier state for MEFV mutations may enhance the host's ability to withstand CCHF, we studied the distribution of MEFV gene mutations in patients with CCHF.


MEFV gene mutations of exon 2 and 10 were detected with polymerase chain reaction (PCR) and direct sequencing in 100 patients with CCHF with a definite diagnosis of CCHF followed in Cumhuriyet University, Sivas / Turkey, (mean age 45.6±17, 58 M: 42 F) and in 91 healthy blood donors (HC) living in the same area.All CCHF patients were classified into two groups in terms of disease severity (mild and severe), according to the predictive factors for fatal outcome reported by Swanepoel et al(1).


Four new mutations were found on exon 10 of 7 CCHF patients and none of the healthy controls. A database search for these novel mutations was negative. The loci of these new MEVF gene mutations on exon 10 are as follows: Q778L, R717Q, P754A and R737K. Q778L mutation was found in four patients, one had a mild whereas the remaining 3 had severe disease. Carrier of R717Q had a severe disease and died, however the carriers of P754A and R737K had mild disease course. All of these patients except the one who died were reevaluated for co-existence of FMF but none had any personal or familial history of FMF.


Here we describe 4 novel MEFV gene mutations in patients with CCHF from a geographical area where MEFV gene carriership is very high. We do not yet know whether these mutations have any effect on the host's ability to withstand an infection.


1)Swanepoel, R, Gill, DE, Shepherd, AJ, Leman, PA, Mynhardt, JH & Harvey, S. The clinical pathology of Crimean-Congo hemorrhagic fever.Rev Infect Dis. 1989 May-Jun;11 Suppl 4:S794–800

To cite this abstract, please use the following information:
Ozgon, Gulay, Engin, Aynur, Hatemi, Gulen, Ugurlu, Serdal, Akyayla, Elif, Bakir, Mehmet, et al; Four Novel MEFV Gene Mutations in a Population Where the Prevalence of Crimean-Congo Hemorrhagic Fever and MEFV Gene Carrier Status Is Very High. [abstract]. Arthritis Rheum 2011;63 Suppl 10 :1947

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