Article detail · 2019
The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia
- Year
- 2019
- Type
- article
Data source split
- YÖKSİS YÖKSİS article record
- YÖKSİS venue Turkish Journal Of Medical Sciences
- Catalog match (ISSN) Turkish Journal of Medical Sciences
- OpenAlex OpenAlex enrichment (abstract, citations, topics)
Abstract
OpenAlex · English
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.
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Citations
OpenAlex cited_by_count. Not a WoS or Scopus citation count; those sources have no separate column here.
45 citations
OpenAlex cited_by_count (cache / database)
70 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).
- Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings 2021
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022