Familial Mediterranean fever in Georgia

Area of Science:

• Genetics
• Autoinflammatory Disorders
• Population Health

Background:

• Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disease.
• Mutations in the MEFV gene cause FMF.
• High FMF carrier rates are documented in Sephardic Jews, Turks, Armenians, and Arab populations.

Purpose of the Study:

• To investigate the prevalence of MEFV mutations in Georgia, where studies were lacking.
• To establish baseline carrier rates for FMF in the Georgian population.

Main Methods:

• DNA samples from 202 unselected newborns in Tbilisi, Georgia were analyzed.
• Multiplex PCR and FMF StripAssay were used to detect twelve common MEFV mutations.
• Analysis was performed on DNA from dried blood spots on filter cards.

Main Results:

• A significant MEFV mutation carrier rate of 15.3% was identified.
• Thirty samples were heterozygous, and one was compound heterozygous or carried a complex allele.
• The most prevalent mutations were E148Q (15x), M680I G/C (5x), and M694V (4x).

Conclusions:

• The carrier rate of MEFV mutations in Georgia is notably high.
• Increased awareness and accessibility of FMF genetic testing are recommended for Georgia.
• These findings contribute to understanding FMF epidemiology in Caucasian populations.