Variant "MEFV:c.442G>C(p.Glu148Gln)"
Search results: 4 records
Variant information
Gene:
MEFV 
Variant:
MEFV:c.442G>C(p.Glu148Gln) 
Genomic location:
chr16:3304626(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000243.2:c.442G>C(p.Glu148Gln)
protein_coding NM_001198536.1:c.277+1685G>C
Alias:
MEFV:E148Q-L110P, MEFV:E148Q 
dbSNP ID:
rs3743930  
GWAS trait:
no data 
Modifier statisitcs
Record:
4 
Disorder:
3 
Reference:
3 
Effect type:
Expressivity(4)  
Modifier effect:
Altered susceptibility(2) ,Altered severity(1) ,Risk factor(1)  
Details：
  • 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.
    Alias in reference:
    MEFV:E148Q
    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.
  • 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.
    Alias in reference:
    MEFV:c.442G>C(p.Glu148Gln)
    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.
  • 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.
    Alias in reference:
    MEFV:E148Q
    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.
  • 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.
    Alias in reference:
    MEFV:E148Q-L110P
    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.