Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever

Öksüz, Mustafa; Karkucak, Mutlu; Görükmez, Orhan; Ocakoğlu, Gökhan; Yıldız, Abdülmecit; Türe, Mehmet; Yakut, Tahsin; Dilek, Kamıl

doi:10.1016/j.rbre.2016.02.004

Cited by 4 publications

(4 citation statements)

References 24 publications

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“…The studies made by Evliyaoglu et al, Yesilada et al, Coskun et al and Gumus reported M694V as the second most common mutation [18,[38][39][40]. M694V was the most commonly observed mutation, which was found between 14.7% to 53.8% of the MEFVs alleles in Turkish Patients with FMF [2,3,17,[22][23][24][40][41][42][43][44][45][46][47][48]. In our study, the third and fourth most commonly seen mutations were V726A and M680I G/C which were observed 2.16% and 2% of carrier alleles, respectively.…”

Section: Discussionmentioning

confidence: 99%

Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings

et al. 2021

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Familial Mediterranean Fever (FMF), which is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, pleuritis, arthritis and erysipelas-like erythemas, has been common among ethnic groups such as Turkish, Armenian, Arabic and Jewish. The clinical presentation is caused by mutations in the MEFV gene encoding the Pyrin protein. In this study, we aimed to present a new mutation that has not been previously defined from the mutations in the MEFV gene which is responsible for the genetic pathology of familial Mediterranean fever and to evaluate the frequency of distribution of the MEFV gene mutation among different ethnic groups living in our region. In present retrospective study, a total of 2639 clinically suspected FMF patients who were referred to Hatay Mustafa Kemal University Hospital between 2010 and 2017 were recorded. MEFV gene mutations were observed using DNA sequence analysis. MEFV mutations were found in 2079 of the 2639 patients (78.7%) Among these patients 184 (6.97%) were homozygous, while 1365 (51.72%) were heterozygous. The most frequently observed mutation was R202Q (1319, 19.55%) followed by E148Q (n = 476, 7.05%), M694V (n = 439, 6.51%), V726A (n = 146, 2.16%) and M680I (n = 135, 2%). In a case clinically diagnosed as FMF, a new mutation called S145G (p. Ser145Gly, c.433A > G) was identified in exon 2 of the MEFV gene. Besides, addition of a new pathogenic MEFV variant to the literature, the relationship between the FMF clinic and homozygous form of R202Q, which was previously considered as a polymorphism, was highlighted.

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Section: Discussionmentioning

confidence: 99%

Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings

et al. 2021

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“…found A165A and G138G more frequently in FMF cases but could not find any relation with FMF clinically [14]. Similarly, Ozturk et al found no relation between R202Q polymorphism and FMF clinically [15].…”

Section: The Relation Between Fmf Gen Polymorphisms and Ibdmentioning

confidence: 96%

“…Previous studies have not shown the clinical significance of R202Q, but in some studies it is considered to be one of the causes of disease in cases where the mutation is homozygous [16]. Ozturk et al reported 2 amyloidosis cases that were related to homozygous R202Q [14]. E148 mutation frequency is 9-27% in Turkey [17].…”

Section: The Relation Between Fmf Gen Polymorphisms and Ibdmentioning

confidence: 99%

MEFV Gene Mutations and Pathologic Gene Polymorphism in Cases with Inflammatory Bowel Diseases

Tümgör¹,

Ağın²,

Bişgin³

2021

JJGH

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“…Other variants of MEFV (rs224224 and rs224223) have been shown to be associated with familial Mediterranean fever. 53 The proteasome subunit alpha type-3 (PSMA3) gene encodes a protein named macropain subunit C8. 54 Being a component of the ubiquitin-proteasome system, genetic variations in PSMA3 have been identified as susceptibility factors for several autoimmune diseases such as JIA 20 and type 1 diabetes mellitus (T1DM).…”

Section: Laboratory Sciencementioning

confidence: 99%

Genetic aspects of idiopathic paediatric uveitis and juvenile idiopathic arthritis associated uveitis in Chinese Han

Deng

Tan

et al. 2019

Br J Ophthalmol

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BackgroundIdiopathic paediatric uveitis (IPU) and juvenile idiopathic arthritis associated uveitis (JIA-U) are the two most common entities in paediatric uveitis. This study addressed the possible association of IPU and JIA-U with genes that had been shown earlier to be associated with juvenile idiopathic arthritis.MethodsWe carried out a case-control association study involving 286 IPU, 134 JIA-U patients and 743 healthy individuals. A total of 84 candidate single nucleotide polymorphisms (SNPs) in 60 genes were selected for this study. The MassARRAY platform and iPLEX Gold Genotyping Assay was used to genotype 83 candidate SNPs and the remaining SNP (rs27293) was analysed using the TaqMan SNP Genotyping Assay.ResultsNo evidence was found for an association of the candidate polymorphisms tested with IPU. Six SNPs (PRM1/rs11074967, JAZF1/rs73300638, IRF5/rs2004640, MEFV/rs224217, PSMA3/rs2348071 and PTPN2/rs7234029) showed an association with JIA-U (p<1.0×10−2).ConclusionOur findings showed associations of six SNPs (PRM1/rs11074967, JAZF1/rs73300638, IRF5/rs2004640, MEFV/rs224217, PSMA3/rs2348071 and PTPN2/rs7234029) with JIA-U. No association was detected between the 84 tested SNPs and IPU.

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Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever

Cited by 4 publications

References 24 publications

Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings

Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings

MEFV Gene Mutations and Pathologic Gene Polymorphism in Cases with Inflammatory Bowel Diseases

Genetic aspects of idiopathic paediatric uveitis and juvenile idiopathic arthritis associated uveitis in Chinese Han

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