Association between sequence variations of the Mediterranean fever gene and fibromyalgia syndrome in a cohort of Turkish patients

Karakuş, Nevin; Yığıt, Serbülent; Inanir, Ahmet; Inanir, Sema; Toprak, Huriye; Okan, Sevil

doi:10.1016/j.cca.2012.07.019

Cited by 14 publications

(14 citation statements)

References 29 publications

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“…34 In this sense, Giaglis et al 30 Whether on the hand R202Q heterozygosity is not commonly associated with disease severity, 30 on the other hand, R202Q variants were found to be remarkably significant in patients with FMFassociated amyloidosis. 35 When R202Q was present in combination with another heterozygous disease-causing mutation, such as M694V mutation and non-M694V mutations (E148Q, V726A, M680I, and P396S), [34][35][36][37][38] it might be associated both with FMF and/or FMF symptoms. However, conducting a subgroup analyses-M694V/R202Q vs M694V/other-the diagnosis of FMF and frequency of FMF symptoms were lower in the M694V/R202 subgroup, predisposing to a mild phenotype.…”

Section: Resultsmentioning

confidence: 99%

Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review

et al. 2018

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Familial Mediterranean fever (FMF) is the most common autosomal recessive autoinflammatory disease. To date, following the isolation of more than 280 MEFV sequence variants, the genotype-phenotype correlation in FMF patients has been intensively investigated; however, an univocal and clear consensus has not been yet reached. Thus, the aim of this systematic review was to analyze the available literature findings in order to provide to scientific community an indirect estimation of the impact of genetic factors on the phenotypic variability of FMF. This systematic review has been conducted according to the Preferred Reporting Items for Systematic reviews and Meta-Analysis (PRISMA) guidelines. The p.M694V mutation was reported to have a relatively severe clinical course, similarly, patients homozygous for M694I and M680I, or carrying a combination of both at codons 694 and 680, have a severe disease. Also, patients homozygous for M694V and V726A variants experienced more severe clinical picture. Conversely, heterozygous p.V726A and p.E148Q genotypes have been correlated with a milder disease course. At present, doubts remain on the potential pathogenic role of E148Q variant. The heterogenity in clinical FMF manifestations reflects the changes occuring in repertoire of mutations. We believe that clinical criteria and gene tests, enhancing each other, could better support the diagnosis of FMF.

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Section: Resultsmentioning

confidence: 99%

Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review

et al. 2018

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“…10,17 So far, the heterozygous R202Q alteration of MEFV genes has been shown to be associated with the E148Q, M680I and P396S mutations. 10,18 Debate still continues over the phenotype-R202Q alteration relationship in FMF. Some studies reported that R202Q is not associated with FMF and does not confer a significant risk of suffering the disease.…”

Section: Discussionmentioning

confidence: 99%

Clinical Significance of R202Q Alteration of MEFV Gene in Children With Familial Mediterranean Fever

et al. 2015

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Objectives:This study aims to investigate the clinical impact of the R202Q (c.605G>A) alteration of Mediterranean fever (MEFV) gene in children with familial Mediterranean fever (FMF). Patients and methods: Medical records of 115 patients (51 males, 64 females; mean age 6.6±3.8 years; range 8 months to 15.8 years) presenting with FMF pre-diagnosis were examined. Patients were classified into two groups based on number of mutated alleles (one-mutant allele and twomutant alleles), and these groups were classified into three subgroups (Group 1; subgroup 1: M694V/R202Q, subgroup 2: M694V/other, subgroup 3: other/other, and Group 2; subgroup 4: R202Q/-, subgroup 5: other/-, subgroup 6: -/-). Sex, age, abdominal pain, fever, arthritis or arthralgia, myalgia, erysipelas-like erythema, chest pain, amyloidosis, family history of FMF, and definitive FMF frequency were compared between groups. Results: The most common allele alterations were the heterozygous R202Q alteration (27%) and the compound heterozygous mutation M694V/ R202Q (20.9%). The R202Q alteration of MEFV gene was detected in 76 patients (66%) (15 homozygous). There was non-M694V (E148Q, V726A) mutation in two of these patients. One (50%) of the patients with isolated R202Q homozygous alteration and six (19%) of the patients with isolated R202Q heterozygous alteration had definitive FMF. In the two-mutant allele group; abdominal pain, fever, arthritis/arthralgia, and definitive FMF frequency were lower in subgroup 1 than subgroup 2. There was no significant difference in clinical findings and definitive FMF frequency between subgroup 2 and subgroup 3. In the one-mutant allele group, clinical findings did not differ between subgroups. Conclusion: R202Q alteration of the MEFV gene may lead to symptoms consistent with FMF. However, R202Q/M694V compound heterozygosity is more associated with mild phenotype than compound heterozygous mutation of M694V.

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“…Furthermore, a clinical study reported that the prevalence of migraine in patients with FMF was 29.1% in the Turkish population 6. Moreover, it has been reported that the presence of MEFV gene mutations might be a susceptibility factor for various inflammatory diseases 27–29. To the best of our knowledge, no study has investigated the association between mutations in the MEFV gene and migraine disease.…”

Section: Introductionmentioning

confidence: 99%

Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case–control study

Coşkun¹,

Varol

Özdemir

et al. 2016

NDT

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Migraine pathogenesis involves a complex interaction between hormones, neurotransmitters, and inflammatory pathways, which also influence the migraine phenotype. The Mediterranean fever gene (MEFV) encodes the pyrin protein. The major role of pyrin appears to be in the regulation of inflammation activity and the processing of the cytokine pro-interleukin-1β, and this cytokine plays a part in migraine pathogenesis. This study included 220 migraine patients and 228 healthy controls. Eight common missense mutations of the MEFV gene, known as M694V, M694I, M680I, V726A, R761H, K695R, P369S, and E148Q, were genotyped using real-time polymerase chain reaction with 5′ nuclease assays, which include sequence specific primers, and probes with a reporter dye. When mutations were evaluated separately among the patient and control groups, only the heterozygote E148Q carrier was found to be significantly higher in the control group than in the patient group (P=0.029, odds ratio [95% confidence interval] =0.45 [0.21–0.94]). In addition, the frequency of the homozygote and the compound heterozygote genotype carrier was found to be significantly higher in patients (n=8, 3.6%) than in the control group (n=1, 0.4%) (P=0.016, odds ratio [95% confidence interval] =8.57 [1.06–69.07]). However, there was no statistically significant difference in the allele frequencies of MEFV mutations between the patients and the healthy control group (P=0.964). In conclusion, the results of the present study suggest that biallelic mutations in the MEFV gene could be associated with a risk of migraine in the Turkish population. Moreover, MEFV mutations could be related to increased frequency and short durations of migraine attacks (P=0.043 and P=0.021, respectively). Future studies in larger groups and expression analysis of MEFV are required to clarify the role of the MEFV gene in migraine susceptibility.

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Association between sequence variations of the Mediterranean fever gene and fibromyalgia syndrome in a cohort of Turkish patients

Cited by 14 publications

References 29 publications

Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review

Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review

Clinical Significance of R202Q Alteration of MEFV Gene in Children With Familial Mediterranean Fever

Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case–control study

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Association between sequence variations of the Mediterranean fever gene and fibromyalgia syndrome in a cohort of Turkish patients

Cited by 14 publications

References 29 publications

Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review

Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review

Clinical Significance of R202Q Alteration of MEFV Gene in Children With Familial Mediterranean Fever

Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case&ndash;control study

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Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case–control study