3rd Familial Mediterranean Fever Meeting

Objective.Familial Mediterranean fever (FMF) is associated with variants in the MEFV gene, but direct evidence from ancient human remains scarce.We investigated the presence and distribution of MEFV variants in ancient individuals from Laodikeia, an ancient city in western Anatolia (mid-3rd century BCE to early 7th century CE), represented here by burials dated to the 1 st -5 th centuries CE.Methods.Forty-two individuals from four necropolis sectors were included.Molar teeth were processed under ancient-DNA clean-room conditions.Following decontamination and extraction, the MEFV gene was analysed by targeted next-generation sequencing using a dedicated panel.Authenticity was assessed by fragment length and terminal damage patterns, and variants were interpreted according to ACMG 2015 criteria.Results.MEFV variants were detected in 21/42 individuals (50%).E148Q was the most frequent finding, with clustering mainly in the western necropolis, where 15/19 individuals (79%) carried at least one MEFV variant within a shared multi-individual tomb context.This pattern is more appropriately interpreted in relation to tomb reuse and possible familial burial structure over time than as an isolated population-level frequency signal.Clinically relevant variants, including M694V, V726A, R761H, and P369S, were also identified across different necropolis sectors.In the northeastern necropolis, composed of individual graves dated to the 1st century CE, 5/15 individuals (33%) were positive, including carriers of M694V, V726A, and R761H.Conclusion.This study provides direct ancient DNA evidence of MEFV variation in western Anatolia during the Roman-Early Byzantine period.Beyond the clustered E148Q signal, the detection of clinically relevant variants in distinct burial contexts supports the presence of FMF-associated genetic variation in ancient Laodikeia.These findings add a direct archaeogenetic layer to the long-term history of MEFV in this region and support future genome-wide and kinship-based analyses.