Gene
SAA1
1 variant(s) documented across Familial Mediterranean Fever
Variants
| Variant | Type | Frequency in disease | Significance | Also found in |
|---|---|---|---|---|
| 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. | AA amyloidosis (various causes) (Risk modifier) |
Clinical implications
SAA1 alpha/alpha genotype
SAA1 genotyping may help identify patients at highest risk for amyloidosis. Combined with M694V status, enables risk stratification.
Testing: SAA1 genotyping, PCR-based assays
Related hypotheses
FMF heterozygotes can manifest clinical disease through a pseudo-dominant or dose-dependent mechanism involving gene modifiers and environmental triggers
50emerging·25 studies