SAA1

Genetic findings for SAA1 in Familial Mediterranean Fever

Variants (1)

Variant	Type	Frequency	Significance
SAA1 alpha/alpha genotype	germline	Modifier (not causative)	The SAA1 alpha/alpha genotype is associated with a sevenfold increase in incidence of renal amyloidosis, especially in patients homozygous for M694V. SAA1 beta and gamma alleles appear protective against amyloidosis.

Clinical implications

SAA1 alpha/alpha genotype

SAA1 genotyping may help identify patients at highest risk for amyloidosis. Combined with M694V status, enables risk stratification.

Also found in: AA amyloidosis (various causes) (Risk modifier)

Related hypotheses

FMF heterozygotes can manifest clinical disease through a pseudo-dominant or dose-dependent mechanism involving gene modifiers and environmental triggers

emerging·25 studies