Autoinflammatory & rare systemic diseases
Spectrum of MEFV variants in 8,252 patients from Eastern and Southeastern Anatolia: a large single-center cohort study (2019–2026)
Authors' conclusion
This study provides a large region-specific reference for MEFV variation in Eastern and Southeastern Anatolia.
Study context
- Population
- Consecutive referrals tested for recurrent MEFV common variants, tertiary genetics laboratory, Eastern and Southeastern Anatolia, 2019–2026 (median age 17 years; 53.8% female)
- Participants
- 8,252 consecutive referrals
- Exposure
- Wild-type (WT) vs Monoallelic vs Multi-allelic
- WTn = 4,985
- Monoallelicn = 2,327
- Multi-allelicn = 940
- Outcome
- MEFV variant spectrum and genotype categories
Methodological detailssingle-center, consecutive referrals, tertiary genetics laboratory
- Single-center
- Consecutive referrals
- Tertiary genetics laboratory
Main finding
As reported in the abstract
Genotype categories
| Group | Value | Homozygous | Compound heterozygous | Complex multi-site |
|---|---|---|---|---|
| WT | 60.4% | |||
| Monoallelic | 28.2% | |||
| Multi-allelic | 11.4% | 3.8% (311/8,252) | 6.9% (569/8,252) | 0.7% (60/8,252) |
Value
WT60.4%
Monoallelic28.2%
Multi-allelic11.4%
Homozygous
WT— not stated in the abstract
Monoallelic— not stated in the abstract
Multi-allelic3.8% (311/8,252)
Compound heterozygous
WT— not stated in the abstract
Monoallelic— not stated in the abstract
Multi-allelic6.9% (569/8,252)
Complex multi-site
WT— not stated in the abstract
Monoallelic— not stated in the abstract
Multi-allelic0.7% (60/8,252)
Observational data: associations, not effects.
Further findings
Most frequent variants
- M694V
- 14.5% (1,199/8,252)
- E148Q
- 14.0% (1,158/8,252)
- V726A
- 5.2% (426/8,252)
- M680I (G > C)
- 4.1% (337/8,252)
- E148Q common but predominantly heterozygous
- Variant rankings broadly similar between females and males
Original publication
Spectrum of MEFV variants in 8,252 patients from Eastern and Southeastern Anatolia: a large single-center cohort study (2019–2026). Pediatr Rheumatol Online J. Published 9 July 2026. doi:10.
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