Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population Türk popülasyonundaki Ailevi Akdeniz ateşi ilişkili MIR197 genindeki genetik varyasyonlar

Nalbant E., Şen B., KILIÇ L., AKKAYA ULUM Z. Y.

Journal of Turkish Society For Rheumatology, vol.16, no.1, pp.38-43, 2024 (Scopus) identifier


Objective: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease caused by the gain of function mutations in the MEFV gene, which encodes pyrin protein. This study aimed to determine single nucleotide polymorphisms in the MIR197 gene locus in FMF patients and healthy controls in Turkish population. We have previously identified miR-197-3p as a differentially expressed miRNA in FMF patients according to disease severity. Methods: DNA was isolated from peripheral blood samples of six FMF patients and 12 healthy controls. The MIR197 gene region was amplified by polymerase chain reaction and Sanger sequencing was performed. DNA sequence analysis results were analyzed with the Chromas (version 2.33). Additionally, open access GWAS data (Harvard Dataverse, V2; Turkish_A1_A2.txt) covering 1011 healthy Turkish people was analyzed using R. Results: Genetic variants in the MIR197 region were not detected in study group. Also, we couldn’t find any genetic variants in the MIR197 region through the analysis of a GWAS study (Harvard Dataverse, V2; Turkish_A1_A2.txt). Conclusion: In this study, we demonstrated that the dysregulated miR-197-3p profile seen in FMF patients is not explained by variations in the MIR197 gene locus. These results suggest that other factors such as promotor methylation, histone modifications, other non-coding RNAs and alterations in post-transcriptional processing may be involved in the changes in miRNA expression and should be investigated further.