title: Mediterranean fever (MEFV) gene mutation frequency is not increased in adults with rheumatic heart disease.
abstract: It is well established that there are people with higher risk of developing acute rheumatic fever (ARF) and rheumatic heart disease (RHD). Mediterranean fever (MEFV) gene mutations might be one of the genetic predisposition factors in the development of ARF/RHD since defect in familial Mediterranean fever (FMF) patients is proposed to be heightened inflammatory response to certain stimuli. Previous clinical observations suggested a relationship between FMF and ARF/RHD. The aim of this study was to investigate the role of the MEFV gene mutations in the susceptibility to RHD in Turkish patients. A total of 100 patients with RHD and 100 healthy controls were included in the study. Diagnosis of RHD was based on echocardiographic findings in which a predominant mitral stenosis was used as an inclusion criterion. Genetic analysis was carried out by sequence analysis investigating two hot spots (exons 2 and 10) for MEFV mutations. Mutation analysis showed that 22 RHD patients (22%) and 24 healthy controls (24%) carried at least one mutated allele. MEFV mutations were identified in 22 of 200 (11%) chromosomes in RHD patients while 26 of the 200 (13%) chromosomes of healthy controls were found to carry a mutated allele. No difference was found in allele frequencies and their distribution between the patients and healthy controls (p = 0.54). MEFV mutations are not associated with a predisposition to develop RHD in adult Turkish patients.
authors.affiliation: Division of Rheumatology, Gulhane School of Medicine, Ankara, Turkey. isimsek1@yahoo.com
authors.forename: Ismail
authors.initials: I
authors.lastname: Simsek
authors.forename: Cem
authors.initials: C
authors.lastname: Koz
authors.forename: Nurcan
authors.initials: N
authors.lastname: Basar
authors.forename: Ismail
authors.initials: I
authors.lastname: Sari
authors.forename: Hakan
authors.initials: H
authors.lastname: Erdem
authors.forename: Salih
authors.initials: S
authors.lastname: Pay
authors.forename: Bunyamin
authors.initials: B
authors.lastname: Kisacik
authors.forename: Muhterem
authors.initials: M
authors.lastname: Bahce
authors.forename: Ayhan
authors.initials: A
authors.lastname: Dinc
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000150:complications / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D000071198:Pyrin; D012214:Rheumatic Heart Disease / Q000209:etiology / Q000235:genetics*; D014421:Turkey; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin