Publication:
Association of FMF-Related (MEFV) point mutations with secondary and FMF amyloidosis

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dc.contributor.authorDİRESKENELİ, RAFİ HANER
dc.contributor.authorsAtagunduz, MP; Tuglular, S; Kantarci, G; Akoglu, E; Direskeneli, H
dc.date.accessioned2022-03-12T17:17:15Z
dc.date.available2022-03-12T17:17:15Z
dc.date.issued2004
dc.description.abstractBackground: Familial Mediterranean fever (FMF) is the major cause of AA amyloidosis in Turkey. M694V mutation in MEFV gene was suggested to be associated with severe clinical features and amyloidosis of FMF. Methods: In this study, the frequencies of three FMF-related MEFV mutations (M694V, M6801 and V726A) were investigated in FMF patients with (AA-FMF, n=37) and without amyloidosis (non-AA-FMF, n=35), in patients with secondary amyloidosis related to non-FMF inflammatory conditions (S-AA, n=19) and in a non-inflammatory control group (n=185) by molecular genetic studies using polymerase chain reaction with the ARMS (amplification refractory mutation system) method. Results: Both AA and non-AA-FMF patients had significantly higher MEFV mutations compared to non-inflammatory controls (81 and 62.7% respectively vs. 4.2%, p=0.0001). AA-FMF patients carried significantly more MEFV mutations than non-AA-FMF patients (p=0.01). M694V was the most common mutation in both FMF groups (63.5 vs. 51.4%), however allele frequency (p=0.17) and the number of homoyzgous patients for this mutation did not differ between the groups (p=0.77). Although lower compared to FMF patients, S-AA patients also had a significantly higher incidence of MEFV mutations than non-inflammatory controls (21 vs. 4.2%) (p=0.0002). M694V was the only MEFV mutation in this group. Conclusion: MEFV mutations are found to be increased both in FMF and non-FMF associated secondary amyloidosis in our study; however, no clear association between M694V and amyloidosis is observed, except in the non-FMF group. Our results suggest that MEVF mutations may also serve as a severity marker for other inflammatory conditions. Copyright (C) 2004 S. Karger AG, Basel.
dc.identifier.doi10.1159/000077375
dc.identifier.issn1660-2110
dc.identifier.pubmed15122067
dc.identifier.urihttps://hdl.handle.net/11424/227800
dc.identifier.wosWOS:000221166900005
dc.language.isoeng
dc.publisherKARGER
dc.relation.ispartofNEPHRON CLINICAL PRACTICE
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectfamilial Mediterranean fever
dc.subjectMEFV mutation
dc.subjectMEFV gene
dc.subjectsecondary amyloidosis
dc.subjectFAMILIAL MEDITERRANEAN FEVER
dc.subjectPHENOTYPE-GENOTYPE CORRELATION
dc.subjectAA AMYLOIDOSIS
dc.subjectDIAGNOSIS
dc.subjectDISEASE
dc.titleAssociation of FMF-Related (MEFV) point mutations with secondary and FMF amyloidosis
dc.typearticle
dspace.entity.typePublication
local.avesis.ida14254a6-fed6-404d-8955-89ee8c9a5357
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages5
oaire.citation.endPageC135
oaire.citation.issue4
oaire.citation.startPageC131
oaire.citation.titleNEPHRON CLINICAL PRACTICE
oaire.citation.volume96
relation.isAuthorOfPublication07a34d26-21f3-475d-bd36-152d6c659370
relation.isAuthorOfPublication.latestForDiscovery07a34d26-21f3-475d-bd36-152d6c659370

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