Yıl: 2024 Cilt: 16 Sayı: 1 Sayfa Aralığı: 38 - 44 Metin Dili: İngilizce DOI: 10.4274/raed.galenos.2024.41713 İndeks Tarihi: 11-06-2024

Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population

Öz:
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.
Anahtar Kelime: FMF microRNA genetic variations SNPs MIR197 gene

Türk popülasyonundaki Ailevi Akdeniz ateşi ilişkili MIR197 genindeki genetik varyasyonlar

Öz:
Amaç: Ailevi Akdeniz ateşi (AAA), pyrin proteinini kodlayan MEFV genindeki fonksiyon kazanımı mutasyonlarının neden olduğu kalıtsal otoenflamatuvar bir hastalıktır. Bu çalışmanın amacı, Türk toplumundaki AAA hastalarında ve sağlıklı kontrollerde MIR197 gen lokusundaki tek nükleotit polimorfizmlerini incelemektir. Grubumuzun daha önceki çalışmalarında, miR-197-3p’nin AAA hastalarında hastalık şiddetine göre değişken ifade gösteren bir miRNA olduğu tanımlanmıştır. Yöntem: Altı AAA hastası ve 12 sağlıklı kontrolün periferik kan örneklerinden DNA izolasyonu yapılmıştır. MIR197 gen bölgesi polimeraz zincir reaksiyonu ile çoğaltılmış ve Sanger dizilemesi yapılmıştır. DNA dizi analizi sonuçları Chromas (sürüm 2.33) ile analiz edilmiştir. Ayrıca Türk popülasyonundan 1011 sağlıklı katılımcıyı kapsayan açık erişimli GWAS verileri (Harvard Dataverse, V2; Turkish_ A1_A2.txt) R programı kullanılarak analiz edilmiştir. Bulgular: Çalışma gruplarında MIR197 gen bölgesinde herhangi bir genetik varyasyon saptanamamıştır. Türk toplumundan 1011 sağlıklı kontrolü içeren GWAS çalışmasının (Harvard Dataverse, V2; Turkish_ A1_A2.txt) analizi sonucunda da MIR197 gen bölgesinde herhangi bir genetik varyant tespit edilememiştir. Sonuç: Bu çalışmada, AAA hastalarında görülen miR-197-3p ifade değişikliğinin nedeninin MIR197 gen lokusundaki varyasyonlarla açıklanmadığını belirlenmiştir. Bu sonuçlar, promotor metilasyonu, histon modifikasyonları, diğer kodlamayan RNA’lar ve transkripsiyon sonrası modifikasyonlar gibi diğer faktörlerin miRNA ekspresyonundaki değişikliklerde rol oynayabileceğini ve daha ileri araştırmaların yapılması gerektiğini göstermektedir.
Anahtar Kelime: AAA mikroRNA genetik varyasyonlar SNPs MIR197 geni

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
0
0
0
  • 1. Tufan A, Lachmann HJ. Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review. Turk J Med Sci 2020;50:1591-610.
  • 2. Lotfy R, Ali O, Zarouk W, EL-Bassyouni H, Nour El-Din G. Epigenetics and Familial Mediterranean fever. Azhar International Journal of Pharmaceutical and Medical Sciences 2021;1:1-12.
  • 3. Annese T, Tamma R, De Giorgis M, Ribatti D. microRNAs Biogenesis, Functions and Role in Tumor Angiogenesis. Front Oncol 2020;10:581007.
  • 4. O’Carroll D, Schaefer A. General Principals of miRNA Biogenesis and Regulation in the Brain. Neuropsychopharmacology 2013;38:39-54.
  • 5. Stavast CJ, Erkeland SJ. The Non-Canonical Aspects of MicroRNAs: Many Roads to Gene Regulation. Cells 2019;8:1465.
  • 6. Mullany LE, Herrick JS, Wolff RK, Slattery ML. Single nucleotide polymorphisms within MicroRNAs, MicroRNA targets, and MicroRNA biogenesis genes and their impact on colorectal cancer survival. Genes Chromosomes Cancer 2017;56:285-95.
  • 7. Chhichholiya Y, Suryan AK, Suman P, Munshi A, Singh S. SNPs in miRNAs and Target Sequences: Role in Cancer and Diabetes. Front Genet 2021;12:793523.
  • 8. Omariba G, Xu F, Wang M, Li K, Zhou Y, Xiao J. Genome-Wide Analysis of MicroRNA-related Single Nucleotide Polymorphisms (SNPs) in Mouse Genome. Scientific Reports 2020;10:1-9.
  • 9. Liu CJ, Fu X, Xia M, Zhang Q, Gu Z, Guo AY. miRNASNP-v3: a comprehensive database for SNPs and disease-related variations in miRNAs and miRNA targets. Nucleic Acids Res 2021;49:D1276-81.
  • 10. Mishra PJ, Mishra PJ, Banerjee D, Bertino JR. MiRSNPs or MiR- polymorphisms, new players in microRNA mediated regulation of the cell: Introducing microRNA pharmacogenomics. Cell Cycle 2008;7:853-8.
  • 11. Machowska M, Galka-Marciniak P, Kozlowski P. Consequences of genetic variants in miRNA genes. Comput Struct Biotechnol J 2022;20:6443.
  • 12. Mishra PJ, Bertino JR. MicroRNA polymorphisms: The future of pharmacogenomics, molecular epidemiology and individualized medicine. Pharmacogenomics 2009;10:399-416.
  • 13. Duan R, Pak CH, Jin P. Single nucleotide polymorphism associated with mature miR-125a alters the processing of pri- miRNA. Hum Mol Genet 2007;16:1124-31.
  • 14. Xu HY, Wang ZY, Chen JF, et al. Association between Ankylosing Spondylitis and the miR-146a and miR-499 Polymorphisms. PLoS One 2015;10.
  • 15. Li Y, Du C, Wang W, et al. Genetic Association of MiR-146a with Multiple Sclerosis Susceptibility in the Chinese Population. Cell Physiol Biochem 2015;35:281-91.
  • 16. Mencía A, Modamio-Høybjør S, Redshaw N, et al. Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. Nat Genet 2009;41:609-13.
  • 17. Nazarenko MS, Koroleva IA, Zarubin AA, Sleptcov AA. miRNA Regulome in Different Atherosclerosis Phenotypes. Mol Biol (Mosk) 2022;56:166-81.
  • 18. Zhou Q, Hou S, Liang L, et al. MicroRNA-146a and Ets-1 gene polymorphisms in ocular Behçet’s disease and Vogt–Koyanagi– Harada syndrome. Ann Rheum Dis 2014;73:170-6.
  • 19. Shan J, Zhou P, Liu Z, Zheng K, Jin X, Du L. Association of miRNA-146a Gene Polymorphism Rs2910164 with Behcet’s Disease: A Meta-analysis. Ocul Immunol Inflamm 2022;30:1883-9.
  • 20. Kong X, Diao S, Xu H, Sun J, Ma B. Association between miRNA-499 gene polymorphism and autoimmune diseases: A meta-analysis. PLoS One 2022;17:e0266265.
  • 21. Zhang J, Wang S, Bai Y, et al. miR-197-3p Promotes Osteosarcoma Stemness and Chemoresistance by Inhibiting SPOPL. J Clin Med 2023;12:1177.
  • 22. Huang Q, Ma B, Su Y, et al. miR-197-3p Represses the Proliferation of Prostate Cancer by Regulating the VDAC1/ AKT/β-catenin Signaling Axis. Int J Biol Sci 2020;16:1417-26.
  • 23. Kumar S, Saikia J, Sharawat SK, Malik PS, Kumar S, Mohan A. Analysis of miR-375-3p, miR-197-3p, and miR-15a-5p Expression and Their Clinical Relevance as Biomarkers in Lung Cancer. Technol Cancer Res Treat 2022;21:15330338221080981.
  • 24. Tian X, Liu J, Jia W, et al. MiR-197-3p affects angiogenesis and inflammation of endothelial cells by targeting CXCR2/COX2 axis. Am J Transl Res 2022;14:4666.
  • 25. Ninomiya M, Kondo Y, Funayama R, et al. Distinct MicroRNAs Expression Profile in Primary Biliary Cirrhosis and Evaluation of miR 505-3p and miR197-3p as Novel Biomarkers. PLoS One 2013;8:e66086.
  • 26. Li Y, Wu X, Gao F, Wang X. MiR-197-3p regulates endothelial cell proliferation and migration by targeting IGF1R and BCL2 in Kawasaki disease. Int J Clin Exp Pathol 2019;12:4181.
  • 27. Akkaya-Ulum YZ, Balci-Peynircioglu B, Karadag O, et al. Alteration of the microRNA expression profile in familial Mediterranean fever patients. Clin Exp Rheumatol 2017;35:S90-4.
  • 28. Akkaya-Ulum YZ, Akbaba TH, Tavukcuoglu Z, et al. Familial Mediterranean fever-related miR-197-3p targets IL1R1 gene and modulates inflammation in monocytes and synovial fibroblasts. Sci Rep 2021;11:685.
  • 29. Li Z. Summary data of Ankylosing Spondylitis GWAS. V2 ed. Harvard Dataverse; 2019.
  • 30. Robinson JT, Thorvaldsdóttir H, Winckler W, et al. Integrative genomics viewer. Nat Biotechnol 2011;29:24-6.
  • 31. Balci-Peynircioglu B, Akkaya-Ulum YZ, Akbaba TH, Tavukcuoglu Z. Potential of miRNAs to predict and treat inflammation from the perspective of Familial Mediterranean Fever. Inflamm Res 2019;68:905-13.
  • 32. Pajares MJ, Alemany-cosme E, Goñi S, Bandres E, Palanca- Ballester C, Sandoval J. Epigenetic Regulation of microRNAs in Cancer: Shortening the Distance from Bench to Bedside. Int J Mol Sci 2021;22:7350.
  • 33. Gebert LFR, MacRae IJ. Regulation of microRNA function in animals. Nat Rev Mol Cell Biol 2018;20:21-37.
  • 34. Bofill-De Ros X, Vang Ørom UA. Recent progress in miRNA biogenesis and decay. RNA Biol 2024;21:1-8.
APA Nalbant E, Şen B, Kılıç L, Akkaya-Ulum Y (2024). Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population. , 38 - 44. 10.4274/raed.galenos.2024.41713
Chicago Nalbant Emre,Şen Başak,Kılıç Levent,Akkaya-Ulum Yeliz Z. Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population. (2024): 38 - 44. 10.4274/raed.galenos.2024.41713
MLA Nalbant Emre,Şen Başak,Kılıç Levent,Akkaya-Ulum Yeliz Z. Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population. , 2024, ss.38 - 44. 10.4274/raed.galenos.2024.41713
AMA Nalbant E,Şen B,Kılıç L,Akkaya-Ulum Y Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population. . 2024; 38 - 44. 10.4274/raed.galenos.2024.41713
Vancouver Nalbant E,Şen B,Kılıç L,Akkaya-Ulum Y Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population. . 2024; 38 - 44. 10.4274/raed.galenos.2024.41713
IEEE Nalbant E,Şen B,Kılıç L,Akkaya-Ulum Y "Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population." , ss.38 - 44, 2024. 10.4274/raed.galenos.2024.41713
ISNAD Nalbant, Emre vd. "Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population". (2024), 38-44. https://doi.org/10.4274/raed.galenos.2024.41713
APA Nalbant E, Şen B, Kılıç L, Akkaya-Ulum Y (2024). Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population. Ulusal Romatoloji Dergisi, 16(1), 38 - 44. 10.4274/raed.galenos.2024.41713
Chicago Nalbant Emre,Şen Başak,Kılıç Levent,Akkaya-Ulum Yeliz Z. Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population. Ulusal Romatoloji Dergisi 16, no.1 (2024): 38 - 44. 10.4274/raed.galenos.2024.41713
MLA Nalbant Emre,Şen Başak,Kılıç Levent,Akkaya-Ulum Yeliz Z. Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population. Ulusal Romatoloji Dergisi, vol.16, no.1, 2024, ss.38 - 44. 10.4274/raed.galenos.2024.41713
AMA Nalbant E,Şen B,Kılıç L,Akkaya-Ulum Y Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population. Ulusal Romatoloji Dergisi. 2024; 16(1): 38 - 44. 10.4274/raed.galenos.2024.41713
Vancouver Nalbant E,Şen B,Kılıç L,Akkaya-Ulum Y Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population. Ulusal Romatoloji Dergisi. 2024; 16(1): 38 - 44. 10.4274/raed.galenos.2024.41713
IEEE Nalbant E,Şen B,Kılıç L,Akkaya-Ulum Y "Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population." Ulusal Romatoloji Dergisi, 16, ss.38 - 44, 2024. 10.4274/raed.galenos.2024.41713
ISNAD Nalbant, Emre vd. "Genetic variations in Familial Mediterranean fever related MIR197 gene in Turkish population". Ulusal Romatoloji Dergisi 16/1 (2024), 38-44. https://doi.org/10.4274/raed.galenos.2024.41713