Familial Mediterranean fever and E148Q pyrin gene mutation in Greece.
Familial Mediterranean fever (FMF) is an inherited disease characterized by recurrent inflammatory polyserositis. Although FMF is classically expected only in Middle East populations, it is becoming evident that the disease affects more groups than initially thought. The disease is associated with a number of mutations of the MEFV gene, which codes for a protein named pyrin. The role of E148Q pyrin gene mutation in the development of FMF remains inconclusive. Some authors believe it causes the disease, whereas others favor the concept of a noncausative role. To understand better the role of this mutation, gathering data from different populations may be of value. We studied 60 Greek cases fulfilling the criteria for FMF diagnosis, 30 cases being a definite FMF diagnosis and 30 a probable diagnosis. Twenty-one of the patients, carried mutation E148Q. One was a homozygote (E148Q/E148Q), and 20 carried mutation E148Q in combination with other mutations (compound heterozygotes). In 6 of the 60 cases studied, no mutations were found. Compared with the results for healthy controls, E148Q mutation is significantly frequent. Because different populations may exhibit different patterns of pyrin mutations, association of the E148Q mutation with FMF should be considered in connection with origin data.
Konstantopoulos
Kostas
K
First Department of Medicine, Athens University Medical School, Athens, Greece. kkonstan@med.uoa.gr
Kanta
Alexandra
A
Lilakos
Konstantinos
K
Papanikolaou
George
G
Meletis
Ioannis
I
D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000235:genetics*; D006115:Greece; D006801:Humans; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin
Hum Mutat. 2000 Apr;15(4):385-6
10737995
Clin Genet. 2002 Jan;61(1):71-3
11903360
Genet Test. 2002 Spring;6(1):15-21
12180071
Clin Exp Rheumatol. 2003 Jul-Aug;21(4 Suppl 30):S53-4; author reply S54
14727462
Clin Exp Rheumatol. 2002 Jul-Aug;20(4 Suppl 26):S1-2
12371627
Ann Intern Med. 1998 Oct 1 ;129(7):539-42
9758573
Hum Mutat. 2000 Apr;15(4):384
10737992
Eur J Hum Genet. 2003 Jan;11(1):50-6
12529705
Ann Rheum Dis. 2003 May;62(5):479-81
12695165
Isr Med Assoc J. 2001 Nov;3(11):838-40
11729581
Eur J Hum Genet. 2001 Jul;9(7):473-83
11464238
Nephrol Dial Transplant. 2002 Nov;17 (11):1921-3
12401847
QJM. 2000 Apr;93(4):223-9
10787450
Eur J Hum Genet. 2000 Apr;8(4):307-10
10854115
Lancet. 2000 Jan 29;355(9201):378-9
10665562
Saudi Med J. 2003 Oct;24(10 ):1055-9
14578967
Eur J Hum Genet. 2001 Jan;9(1):51-5
11175300
Int J Hematol. 2004 Apr;79(3):235-7
15168590
Blood. 2000 Feb 15;95(4):1451-5
10666224
Hum Mutat. 2003 Oct;22(4):339-40
12955725
Eur J Hum Genet. 1999 Apr;7(3):287-92
10234504
Arthritis Rheum. 2002 Oct;46(10 ):2785-93
12384939
Lancet. 1998 Feb 28;351(9103):659-64
9500348
Hum Mol Genet. 1998 Aug;7(8):1317-25
9668175
Arthritis Rheum. 2001 Jan;44(1):163-9
11212154