MEFV gene mutations in Turkish children with juvenile idiopathic arthritis

Çomak, Elif; Doğan, Çağla Serpil; Akman, Sema; Koyun, Mustafa; Gökçeoğlu, Arife Uslu; Keser, İbrahim

doi:10.1007/s00431-013-2003-x

Cited by 25 publications

(17 citation statements)

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“…The same authors investigated polymorphisms in the IL1 gene cluster and toll like receptors 2 and 4 genes but did not find an association with ERA [99,100]. At least two studies have identified a high frequency of MEFV gene mutations among Mediterranean patients with ERA but without the classical symptoms of Familial Mediterranean Fever which is associated with homozygous mutations in MEFV [101,102]. …”

Section: Genetics Of Enthesitis-related Arthritis (Era)mentioning

confidence: 99%

Immunogenetics of juvenile idiopathic arthritis: A comprehensive review

Hersh

Prahalad

2015

Journal of Autoimmunity

115

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Juvenile idiopathic arthritis (JIA) is the most common chronic inflammatory arthropathy of childhood. Juvenile idiopathic arthritis is believed to be a complex genetic trait influenced by both genetic and environmental factors. Twin and family studies suggest a substantial role for genetic factors in the predisposition to JIA. Describing the genetics is complicated by the heterogeneity of JIA; the International League of Associations for Rheumatology (ILAR) has defined seven categories of JIA based on distinct clinical and laboratory features. Utilizing a variety of techniques including candidate gene studies, the use of genotyping arrays such as Immunochip, and genome wide association studies (GWAS), both human leukocyte antigen (HLA) and non-HLA susceptibility loci associated with JIA have been described. Several of these polymorphisms (e.g. HLA class II, PTPN22, STAT4) are shared with other common autoimmune conditions; other novel polymorphisms that have been identified may be unique to JIA. Associations with oligoarticular and RF-negative polyarticular JIA are the best characterized. A strong association between HLA DRB1:11:03/04 and DRB1:08:01, and a protective effect of DRB1:15:01 have been described. HLA DPB1:02:01 has also been associated with oligoarticular and RF-negative polyarticular JIA. Besides PTPN22, STAT4 and PTPN2 variants, IL2, IL2RA, IL2RB, as well as IL6 and IL6R loci also harbor variants associated with oligoarticular and RF-negative polyarticular JIA. RF-positive polyarticular JIA is associated with many of the shared epitope encoding HLA DRB1 alleles, as well as PTPN22, STAT4 and TNFAIP3 variants. ERA is associated with HLA B27. Most other associations between JIA categories and HLA or non-HLA variants need confirmation. The formation of International Consortia to ascertain and analyze large cohorts of JIA categories, validation of reported findings in independent cohorts, and functional studies will enhance our understanding of the genetic underpinnings of JIA.

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Section: Genetics Of Enthesitis-related Arthritis (Era)mentioning

confidence: 99%

Immunogenetics of juvenile idiopathic arthritis: A comprehensive review

Hersh

Prahalad

2015

Journal of Autoimmunity

115

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“…Females are much more frequently affected with almost all types of JIA [11]. The aetiopathogenesis of JIA is not entirely understood, but abnormal immunoregulation, cytokine production, immunogenetic predisposition and latent viral infection may be involved [12]. …”

Section: Introductionmentioning

confidence: 99%

Unstimulated salivary flow, pH, proteins and oral health in patients with Juvenile Idiopathic Arthritis

et al. 2017

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BackgroundThere have been inconsistent conclusions regarding salivary abnormalities and their effect on oral health of Juvenile Idiopathic Arthritis (JIA) patients. The purpose of the study was to evaluate the flow rate and selected biochemical parameters of unstimulated whole saliva in correlation to oral health in JIA children.MethodsThirty-four JIA patients and 34 age- and sex-matched controls not affected by JIA (C) were divided into two groups: with mixed and permanent dentition. DMFT/dmft, gingival and simplified oral hygiene indices were evaluated. Salivary flow rate, pH, lysozyme, lactoferrin, salivary protein concentrations and peroxidase activity were assessed.ResultsThe salivary flow rate was significantly lower in the total JIA group (0.41 ml/min) as compared with the C (0.51 ml/min) and in the permanent dentition of JIA children (0.43 ml/min) as compared with the C (0.61 ml/min). A significantly lower pH was observed in total (6.74), mixed (6.7) and permanent (6.76) dentition of JIA groups in comparison to the C (7.25, 7.21, 7.28 respectively). The specific activity of peroxidase was significantly higher in JIA patients (total 112.72 IU/l, mixed dentition 112.98 IU/l, permanent dentition 112.5 IU/l) than in the C group (total 70.03 IU/l, mixed dentition 71.83 IU/l, permanent dentition 68.61 IU/l). The lysozyme concentration in JIA patients (total and permanent dentition groups) was significantly higher than in the C group. There were no significant differences in lactoferrin and salivary protein concentrations. There were no statistically significant differences in oral status between JIA patients and C, respectively: DMFT = 5.71, dmft = 3.73, OHI-S = 0.95, GI = 0.25 and DMFT 5.71, dmft = 3.73, OHI-S = 0.85, GI = 0.24. The specific activity of peroxidase in the unstimulated whole saliva was inversely correlated with the GI index, whereas the salivary lysozyme concentration was inversely correlated with the dmft index in JIA patients.ConclusionIn the course of JIA occur a reduction of the resting salivary flow rate and a decrease of saliva pH. In spite of this, no differences in the clinical oral status between the JIA children population and the control group were found. The mobilisation of salivary peroxidase and lysozyme contributes to the maintenance of healthy oral tissues.

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“…As with adults, the commonest pattern (consistently about 70 %) was recurrent self-limiting attacks of monoarthritis affecting the lower limbs with a low risk of long-term damage and a suggestion that colchicine prophylaxis was joint protective [ 44 ]. In Turkish, children with JIA carriage of MEFV variants were increased particularly among ANA-negative subjects and boys [ 45 ].…”

Section: Juvenile Arthritismentioning

confidence: 95%

Long-Term Complications of Familial Mediterranean Fever

Lachmann

2015

Rare Diseases of the Immune System

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The recurrent infl ammatory attacks in FMF cause intense acute symptoms and confer a markedly increased relative risk of developing AA amyloidosis and eventually end-stage renal disease. Prior to the colchicine era, this was a major scourge particularly around the Eastern Mediterranean. Other potential complications of FMF include destructive arthritis, adhesions, subfertility, and vasculitis. Fortunately, these remain very rare, and with long-term treatment, recent studies suggest that both complications and mortality for FMF appear very close to age-matched healthy controls. MortalityThe most comprehensive study of mortality in FMF came from Israel in 2013 and compared 1,225 individuals with FMF to 1,243,125 controls among military service recruits (aged 16-20) from 1993 to 1997 [ 1 ]. Over 30 years of follow-up, death rates were signifi cantly higher in individuals with FMF: 8.73 compared to 4.32 per 10,000 person-years and hazard ratio 1.705 for males and 2.48 for females. Renal AA amyloidosis seemed to be the single commonest contributor, reported in 35 and 60 % of deaths in men and women, respectively. There was no suggestion that malignancy rates differed between the FMF cases and controls. This study only included individuals who were healthy enough for military conscription as young adults, and consequently, their mortality rates were lower than that recently reported for the general Israeli population in the age range 25-49 years

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MEFV gene mutations in Turkish children with juvenile idiopathic arthritis

Abstract: These findings suggest that mutations of the MEFV gene may be responsible for rheumatic diseases other than FMF, and patients with JIA especially males, ANA negatives, and ERA subgroups should be screened for MEFV gene mutations in countries where FMF is frequent.

Cited by 25 publications

References 17 publications

Immunogenetics of juvenile idiopathic arthritis: A comprehensive review

Immunogenetics of juvenile idiopathic arthritis: A comprehensive review

Unstimulated salivary flow, pH, proteins and oral health in patients with Juvenile Idiopathic Arthritis

Long-Term Complications of Familial Mediterranean Fever

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