The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia
Adolescent
Adult
Child
Cytoskeletal Proteins
/ genetics
DNA Mutational Analysis
Familial Mediterranean Fever
/ diagnosis
Female
Gene Frequency
Genetic Predisposition to Disease
/ epidemiology
Genetic Testing
Genetics, Population
/ statistics & numerical data
Humans
Male
Middle Aged
Mutation
/ genetics
Mutation Rate
Pyrin
/ genetics
Retrospective Studies
Turkey
/ epidemiology
Young Adult
Familial Mediterranean fever
Mediterranean fever gene mutations
M694V
Turkey
Journal
Turkish journal of medical sciences
ISSN: 1303-6165
Titre abrégé: Turk J Med Sci
Pays: Turkey
ID NLM: 9441758
Informations de publication
Date de publication:
18 04 2019
18 04 2019
Historique:
entrez:
20
3
2019
pubmed:
20
3
2019
medline:
12
9
2019
Statut:
epublish
Résumé
The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF)
patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim
of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter
study. Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country,
were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in
413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele
frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214,
1%), and M694I (n = 12, <1%). In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations
obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.
Sections du résumé
Background/aim
The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF)
patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim
of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter
study.
Materials and methods
Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country,
were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q.
Results
There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in
413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele
frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214,
1%), and M694I (n = 12, <1%).
Conclusion
In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations
obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.
Identifiants
pubmed: 30887796
doi: 10.3906/sag-1809-100
pmc: PMC7018361
doi:
Substances chimiques
Cytoskeletal Proteins
0
MEFV protein, human
0
Pyrin
0
Types de publication
Journal Article
Multicenter Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
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