MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

Area of Science:

• Genetics and Rheumatology
• Molecular Biology
• Disease Pathogenesis

Background:

• Ankylosing spondylitis (AS) is a chronic inflammatory disease primarily affecting the axial skeleton.
• The role of familial Mediterranean fever (MEFV) gene mutations in AS pathogenesis is not fully understood.
• Investigating MEFV mutations in AS may reveal potential genetic predispositions or modifying factors.

Purpose of the Study:

• To determine the frequency of MEFV gene mutations in patients diagnosed with ankylosing spondylitis.
• To compare the clinical and laboratory features of AS patients who are MEFV mutation carriers versus noncarriers.
• To assess the allelic frequency of MEFV mutations in AS patients relative to healthy controls.

Main Methods:

• Genotyping of 12 MEFV mutations using multiplex polymerase chain reaction/reverse hybridization in 112 AS patients.
• Calculation of Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) scores.
• Comparison of MEFV mutation frequencies with historical data from healthy controls.

Main Results:

• MEFV mutations were detected in 39% of AS patients (20% of alleles).
• Common mutations included M694V and E148Q (30% each).
• No significant differences were observed in clinical parameters (sex, onset age, duration, peripheral involvement) or laboratory markers (BASDAI, BASFI, acute phase reactants) between MEFV carriers and noncarriers.

Conclusions:

• The study found a notable frequency of MEFV mutations in AS patients, but no clear clinical or laboratory impact on disease presentation or activity.
• Further research is warranted to elucidate the precise role, if any, of MEFV mutations in the course of ankylosing spondylitis.
• The allelic frequency of MEFV mutations in AS patients did not differ significantly from healthy controls.