MEFV

Genetic findings for MEFV in Adult-Onset Still's Disease

Variants (1)

Variant	Type	Frequency	Significance
Multiple variants including common FMF-associated mutations (E148Q, M694V, etc.)	germline	15-63% carry variants depending on population (53% in Korean, 63% in Japanese, 15-28% in Caucasian)	Elevated MEFV variant frequency suggests genetic overlap between AOSD and hereditary periodic fever syndromes, supporting the autoinflammatory disease continuum

Clinical implications

Multiple variants including common FMF-associated mutations (E148Q, M694V, etc.)

MEFV variants may lower the threshold for inflammasome activation; partial response to colchicine reported in patients with MEFV mutations

Also found in: Familial Mediterranean Fever (Homozygous in >80%), Schnitzler Syndrome (Emerging (2024-2025))

Related hypotheses

Genetic susceptibility via HLA polymorphisms and autoinflammatory gene variants predisposes to AOSD

emerging·12 studies

Sources (2)

DetailsSigrist S et al. (2018) Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes · RheumatologyDOI ↗

DetailsWouters JM et al. (2012) The association of TNFRSF1A gene and MEFV gene mutations with adult onset Still's disease · Clin Exp RheumatolDOI ↗