Gene

MIF

1 variant(s) documented across Adult-Onset Still's Disease

Variants

VariantTypeFrequency in diseaseSignificanceAlso found in
Functional promoter polymorphismsgermlinePolymorphisms associated with disease susceptibility in some populationsMacrophage migration inhibitory factor (MIF) is a pro-inflammatory cytokine that may contribute to AOSD pathogenesis through macrophage activationRheumatoid arthritis (Associated); Systemic lupus erythematosus (Associated)

Clinical implications

Functional promoter polymorphisms

MIF polymorphisms may modulate disease susceptibility but are not yet clinically actionable

Testing: PCR-RFLP, SNP genotyping

Related hypotheses

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

45
emerging·12 studies

Sources (1)

DetailsGerfaud-Valentin M et al. (2014) Adult-onset Still's diseasePubMed ↗