title: Familial Mediterranean fever and E148Q pyrin gene mutation in Greece.
abstract: 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.
authors.affiliation: First Department of Medicine, Athens University Medical School, Athens, Greece. kkonstan@med.uoa.gr
authors.forename: Kostas
authors.initials: K
authors.lastname: Konstantopoulos
authors.forename: Alexandra
authors.initials: A
authors.lastname: Kanta
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Lilakos
authors.forename: George
authors.initials: G
authors.lastname: Papanikolaou
authors.forename: Ioannis
authors.initials: I
authors.lastname: Meletis
mesh_terms: D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000235:genetics*; D006115:Greece; D006801:Humans; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin
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