Gene "MEFV"
Found 9 records
Gene information
Gene symbol:
MEFV
See related:
Ensembl: ENSG00000103313, Gene ID: 4210
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
9 
Disorder:
3 
Vriant:
6 
Reference:
3 
Effect type:
Expressivity(9)  
Modifier effect:
Altered susceptibility(5) ,Risk factor(3) ,Altered severity(1)  
Details：
  • Variant 1:
    MEFV:c.910G>A(p.Gly304Arg)
    Gene:
    MEFV
    Genomic location:
    chr16:3304158
    dbSNP ID:
    rs75977701
    Target disease:
    Myopathy(DOID_423)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.
    Reference:
    PMID24965843
    Title:
    MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages.
    Species studied:
    Human
    Abstract:
    Inflammatory myopathy with abundant macrophages (IMAM) has recently been proposed as a new clinical condition. Although IMAM shares certain similarities with other inflammatory myopathies, the mechanisms responsible for this condition remain unknown. Patients with familial Mediterranean fever (FMF) and tumour necrosis factor receptor-associated periodic syndrome (TRAPS) also often develop myalgia. We therefore investigated the polymorphisms or mutations of MEFV and TNFRSF1A genes in patients with IMAM to identify their potential role in this condition. We analysed the clinical features of nine patients with IMAM and sequenced exons of the MEFV and TNFRSF1A genes. The patients with IMAM had clinical symptoms such as myalgia, muscle weakness, erythema, fever and arthralgia. Although none of the patients were diagnosed with FMF or TRAPS, seven demonstrated MEFV polymorphisms (G304R, R202R, E148Q, E148Q-L110P and P369S-R408Q), and one demonstrated a TNFRSF1A mutation (C43R). These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.
  • Variant 2:
    MEFV:c.605G>A(p.Arg202Gln)
    Gene:
    MEFV
    Genomic location:
    chr16:3304463
    dbSNP ID:
    rs224222
    Target disease:
    Myopathy(DOID_423)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.
    Reference:
    PMID24965843
    Title:
    MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages.
    Species studied:
    Human
    Abstract:
    Inflammatory myopathy with abundant macrophages (IMAM) has recently been proposed as a new clinical condition. Although IMAM shares certain similarities with other inflammatory myopathies, the mechanisms responsible for this condition remain unknown. Patients with familial Mediterranean fever (FMF) and tumour necrosis factor receptor-associated periodic syndrome (TRAPS) also often develop myalgia. We therefore investigated the polymorphisms or mutations of MEFV and TNFRSF1A genes in patients with IMAM to identify their potential role in this condition. We analysed the clinical features of nine patients with IMAM and sequenced exons of the MEFV and TNFRSF1A genes. The patients with IMAM had clinical symptoms such as myalgia, muscle weakness, erythema, fever and arthralgia. Although none of the patients were diagnosed with FMF or TRAPS, seven demonstrated MEFV polymorphisms (G304R, R202R, E148Q, E148Q-L110P and P369S-R408Q), and one demonstrated a TNFRSF1A mutation (C43R). These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.
  • Variant 3:
    MEFV:c.442G>C(p.Glu148Gln)
    Gene:
    MEFV
    Genomic location:
    chr16:3304626
    dbSNP ID:
    rs3743930
    Alias:
    MEFV:E148Q-L110P, MEFV:E148Q
    Target disease:
    Behcet's Disease(DOID_13241)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Carriers experience thrombosis more often [54% vs. 17%, p<0.005, odds ratio (OR) = 6.9, 95% confidence interval (CI) 1.75–26.9] and uveitis less often (20% vs. 40%, p<0.05, OR=0.2, 95% ci 0.04–0.92) 
    Effect:
    The three most common MEFV mutations (M694V, V726A, and E148Q) may predispose to development of Behcet's disease with increased risk for venous thrombosis.
    Reference:
    PMID17454935
    Title:
    Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis.
    Species studied:
    Human
    Abstract:
    Behcet's disease (BD) is an inflammatory disorder of unknown cause, associated with vasculitis. Arterial or venous thrombosis occurs in about 25% of BD patients. Familial Mediterranean fever (FMF) is another inflammatory disorder, which stems from mutations in the FMF gene (MEFV) and shares a number of features with BD.
  • Variant 4:
    MEFV:c.442G>C(p.Glu148Gln)
    Gene:
    MEFV
    Genomic location:
    chr16:3304626
    dbSNP ID:
    rs3743930
    Alias:
    MEFV:E148Q-L110P, MEFV:E148Q
    Target disease:
    Familial Mediterranean Fever(DOID_2987)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    N=97, P=0.01, 95% CI: 1.74 to 128 
    Effect:
    The E148Q mutation, is an independent modifier of the clinical manifestations of RA.
    Reference:
    PMID15958759
    Title:
    Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene.
    Species studied:
    Human
    Abstract:
    Pyrin is a newly recognised intracellular regulator of inflammation, and mutations in MEFV, the gene encoding pyrin, are the cause of familial Mediterranean fever.
  • Variant 5:
    MEFV:c.442G>C(p.Glu148Gln)
    Gene:
    MEFV
    Genomic location:
    chr16:3304626
    dbSNP ID:
    rs3743930
    Alias:
    MEFV:E148Q-L110P, MEFV:E148Q
    Target disease:
    Myopathy(DOID_423)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.
    Reference:
    PMID24965843
    Title:
    MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages.
    Species studied:
    Human
    Abstract:
    Inflammatory myopathy with abundant macrophages (IMAM) has recently been proposed as a new clinical condition. Although IMAM shares certain similarities with other inflammatory myopathies, the mechanisms responsible for this condition remain unknown. Patients with familial Mediterranean fever (FMF) and tumour necrosis factor receptor-associated periodic syndrome (TRAPS) also often develop myalgia. We therefore investigated the polymorphisms or mutations of MEFV and TNFRSF1A genes in patients with IMAM to identify their potential role in this condition. We analysed the clinical features of nine patients with IMAM and sequenced exons of the MEFV and TNFRSF1A genes. The patients with IMAM had clinical symptoms such as myalgia, muscle weakness, erythema, fever and arthralgia. Although none of the patients were diagnosed with FMF or TRAPS, seven demonstrated MEFV polymorphisms (G304R, R202R, E148Q, E148Q-L110P and P369S-R408Q), and one demonstrated a TNFRSF1A mutation (C43R). These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.
  • Variant 6:
    MEFV:c.442G>C(p.Glu148Gln)
    Gene:
    MEFV
    Genomic location:
    chr16:3304626
    dbSNP ID:
    rs3743930
    Alias:
    MEFV:E148Q-L110P, MEFV:E148Q
    Target disease:
    Myopathy(DOID_423)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.
    Reference:
    PMID24965843
    Title:
    MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages.
    Species studied:
    Human
    Abstract:
    Inflammatory myopathy with abundant macrophages (IMAM) has recently been proposed as a new clinical condition. Although IMAM shares certain similarities with other inflammatory myopathies, the mechanisms responsible for this condition remain unknown. Patients with familial Mediterranean fever (FMF) and tumour necrosis factor receptor-associated periodic syndrome (TRAPS) also often develop myalgia. We therefore investigated the polymorphisms or mutations of MEFV and TNFRSF1A genes in patients with IMAM to identify their potential role in this condition. We analysed the clinical features of nine patients with IMAM and sequenced exons of the MEFV and TNFRSF1A genes. The patients with IMAM had clinical symptoms such as myalgia, muscle weakness, erythema, fever and arthralgia. Although none of the patients were diagnosed with FMF or TRAPS, seven demonstrated MEFV polymorphisms (G304R, R202R, E148Q, E148Q-L110P and P369S-R408Q), and one demonstrated a TNFRSF1A mutation (C43R). These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.
  • Variant 7:
    MEFV:c.2177T>C(p.Val726Ala)
    Gene:
    MEFV
    Genomic location:
    chr16:3293310
    dbSNP ID:
    rs28940579
    Target disease:
    Behcet's Disease(DOID_13241)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Carriers experience thrombosis more often [54% vs. 17%, p<0.005, odds ratio (OR) = 6.9, 95% confidence interval (CI) 1.75–26.9] and uveitis less often (20% vs. 40%, p<0.05, OR=0.2, 95% ci 0.04–0.92) 
    Effect:
    The three most common MEFV mutations (M694V, V726A, and E148Q) may predispose to development of Behcet's disease with increased risk for venous thrombosis.
    Reference:
    PMID17454935
    Title:
    Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis.
    Species studied:
    Human
    Abstract:
    Behcet's disease (BD) is an inflammatory disorder of unknown cause, associated with vasculitis. Arterial or venous thrombosis occurs in about 25% of BD patients. Familial Mediterranean fever (FMF) is another inflammatory disorder, which stems from mutations in the FMF gene (MEFV) and shares a number of features with BD.
  • Variant 8:
    MEFV:c.2080A>T(p.Met694Leu)
    Gene:
    MEFV
    Genomic location:
    chr16:3293407
    dbSNP ID:
    rs61752717
    Target disease:
    Behcet's Disease(DOID_13241)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Carriers experience thrombosis more often [54% vs. 17%, p<0.005, odds ratio (OR) = 6.9, 95% confidence interval (CI) 1.75–26.9] and uveitis less often (20% vs. 40%, p<0.05, OR=0.2, 95% ci 0.04–0.92) 
    Effect:
    The three most common MEFV mutations (M694V, V726A, and E148Q) may predispose to development of Behcet's disease with increased risk for venous thrombosis.
    Reference:
    PMID17454935
    Title:
    Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis.
    Species studied:
    Human
    Abstract:
    Behcet's disease (BD) is an inflammatory disorder of unknown cause, associated with vasculitis. Arterial or venous thrombosis occurs in about 25% of BD patients. Familial Mediterranean fever (FMF) is another inflammatory disorder, which stems from mutations in the FMF gene (MEFV) and shares a number of features with BD.
  • Variant 9:
    MEFV:c.1105C>T(p.Pro369Ser)
    Gene:
    MEFV
    Genomic location:
    chr16:3299586
    dbSNP ID:
    rs11466023
    Target disease:
    Myopathy(DOID_423)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.
    Reference:
    PMID24965843
    Title:
    MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages.
    Species studied:
    Human
    Abstract:
    Inflammatory myopathy with abundant macrophages (IMAM) has recently been proposed as a new clinical condition. Although IMAM shares certain similarities with other inflammatory myopathies, the mechanisms responsible for this condition remain unknown. Patients with familial Mediterranean fever (FMF) and tumour necrosis factor receptor-associated periodic syndrome (TRAPS) also often develop myalgia. We therefore investigated the polymorphisms or mutations of MEFV and TNFRSF1A genes in patients with IMAM to identify their potential role in this condition. We analysed the clinical features of nine patients with IMAM and sequenced exons of the MEFV and TNFRSF1A genes. The patients with IMAM had clinical symptoms such as myalgia, muscle weakness, erythema, fever and arthralgia. Although none of the patients were diagnosed with FMF or TRAPS, seven demonstrated MEFV polymorphisms (G304R, R202R, E148Q, E148Q-L110P and P369S-R408Q), and one demonstrated a TNFRSF1A mutation (C43R). These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.