Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study
Yıl: 2023 Cilt: 38 Sayı: 2 Sayfa Aralığı: 238 - 248 Metin Dili: İngilizce DOI: 10.46497/ArchRheumatol.2023.9468 İndeks Tarihi: 13-07-2023
Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study
Öz: Objectives: This study aimed to investigate the potential effect of the mevalonate kinase (MVK) gene polymorphisms on the pathogenesis and clinical findings in ankylosing spondylitis (AS) patients. Patients and methods: This cross-sectional study was conducted with 103 participants (63 males, 40 females) between January 2013 and January 2014. Of these, 51 (32 males, 19 females; mean age: 37.3±10.2 years; range, 19 to 60 years) were adult AS patients who met the 1984 Modified New York Criteria, and 52 (31 males, 21 females; mean age: 33.8±12 years; range, 19 to 60 years) were healthy volunteers with similar demographics. MVK gene analysis was performed using polymerase chain reaction sequencing by isolating deoxyribonucleic acids from peripheral blood samples. We determined serum immunoglobulin (Ig)D levels using radial immunodiffusion. We performed physical examinations on the AS patients. The Bath Ankylosing Spondylitis Disease Activity Index and the Bath Ankylosing Spondylitis Functional Index forms were filled and erythrocyte sedimentation rate, C-reactive protein, and IgD levels were recorded. Results: There was no statistically significant difference in the mean age between the groups (p=0.121). The frequency of symptomatic single nucleotide polymorphisms (SNPs), c.769-38 C>T heterozygous, c.769-7 T>G heterozygous, and c.769-38 C>T homozygous were similar between the groups (15/15; p=0.646). Nonsymptomatic SNPs were more common in the patient group, but the difference was not significant (83/58; p>0.05). The rate of having an MVK gene polymorphism was 36 (70.6%) in the AS compared to the 33 (63.4%) in the control group (p>0.05). There were no associations in clinical findings between the AS patients with or without MVK gene polymorphisms. New heterozygous SNPs, I56V A>G, E281D G>D, V80I G>A, and C173Y G>A, were present in four AS patients. Conclusion: The frequency of MVK gene polymorphisms was higher in AS patients than in healthy controls. But there was no statistically significant difference. We determined no effect of the present polymorphisms on AS clinical and laboratory findings.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
- 1. Pedersen SJ, Maksymowych WP. The pathogenesis of ankylosing spondylitis: An update. Curr Rheumatol Rep 2019;21:58.
- 2. Onen F, Akar S, Birlik M, Sari I, Khan MA, Gurler O, et al. Prevalence of ankylosing spondylitis and related spondyloarthritides in an urban area of Izmir, Turkey. J Rheumatol 2008;35:305-9.
- 3. Thomas GP, Brown MA. Genetics and genomics of ankylosing spondylitis. Immunol Rev 2010;233:162-80.
- 4. Cosan F, Ustek D, Oku B, Duymaz-Tozkir J, Cakiris A, Abaci N, et al. Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis. Arthritis Rheum 2010;62:3232-6.
- 5. Akkoc N, Gul A. Familial Mediterranean fever and seronegative arthritis. Curr Rheumatol Rep 2011;13:388-94.
- 6. Merashli M, Noureldine MHA, Tfayli Y, Jawad A, Uthman I. Ankylosing spondylitis among familial mediterranean fever patients. Endocr Metab Immune Disord Drug Targets 2018;18:148-54.
- 7. Yazici A, Ozdemir Isik O, Temiz Karadag D, Cefle A. Are there any clinical differences between ankylosing spondylitis patients and familial Mediterranean fever patients with ankylosing spondylitis? Int J Clin Pract 2021;75:e13645.
- 8. Ozer E, Seker D, Taner E, Adrovic A, Sahin S, Barut K, et al. The frequency of juvenile spondyloarthropathies in childhood familial Mediterranean fever. Clin Exp Rheumatol 2018;36(6 Suppl 115):141-5.
- 9. Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G, et al. Mevalonate kinase deficiency: A survey of 50 patients. Pediatrics 2011;128:e152-9.
- 10. Vuch J, Marcuzzi A, Bianco AM, Tommasini A, Zanin V, Crovella S. Evolutionary hypothesis of the mevalonate kinase deficiency. Med Hypotheses 2013;80:67-9.
- 11. Ozen S, Hoffman HM, Frenkel J, Kastner D. Familial Mediterranean Fever (FMF) and beyond: A new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6-10 November 2005. Ann Rheum Dis 2006;65:961-4.
- 12. van der Meer JW, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJ, Lobatto S, et al. Hyperimmunoglobulinaemia D and periodic fever: A new syndrome. Lancet 1984;1:1087-90.
- 13. van der Hilst JCH, Bodar EJ, Barron KS, Frenkel J, Drenth JPH, van der Meer JWM, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore) 2008;87:301-10.
- 14. Simon A, Drenth JP, Matern D, Goetzman ES, Hager EJ, Gibson KM. Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): New insight into heritable periodic fevers. Mol Genet Metab 2013;108:166-71.
- 15. Li Z, Akar S, Yarkan H, Lee SK, Çetin P, Can G, et al. Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis. PLoS Genet 2019;15:e1008038.
- 16. Koné-Paut I, Sanchez E, Le Quellec A, Manna R, Touitou I. Autoinflammatory gene mutations in Behçet's disease. Ann Rheum Dis 2007;66:832-4.
- 17. Arslan Ta D, Erken E, Yildiz F, Dinkçi S, Sakalli H. Mevalonate kinase gene mutations and their clinical correlations in Behçet's disease. Int J Rheum Dis 2014;17:435-43.
- 18. Raychaudhuri SP, Deodhar A. The classification and diagnostic criteria of ankylosing spondylitis. J Autoimmun 2014;48-49:128-33.
- 19. Yanik B, Gürsel YK, Kutlay S, Ay S, Elhan AH. Adaptation of the Bath Ankylosing Spondylitis Functional Index to the Turkish population, its reliability and validity: Functional assessment in AS. Clin Rheumatol 2005;24:41-7.
- 20. Karatepe AG, Akkoc Y, Akar S, Kirazli Y, Akkoc N. The Turkish versions of the Bath Ankylosing Spondylitis and Dougados Functional Indices: Reliability and validity. Rheumatol Int 2005;25:612-8.
- 21. Vladutiu AO. Immunoglobulin D: Properties, measurement, and clinical relevance. Clin Diagn Lab Immunol 2000;7:131-40.
- 22. Wu X, Wang G, Zhang L, Xu H. Genetics of ankylosing spondylitis-focusing on the ethnic difference between East Asia and Europe. Front Genet 2021;12:671682.
- 23. Tas DA, Dınkcı S, Erken E. Different clinical presentation of the hyperimmunoglobulin D syndrome (HIDS) (four cases from Turkey). Clin Rheumatol 2012;31:889-93.
- 24. Combemale P, Denis-Thely L, Crozes P, Estival JL, Dupin M, Chouvet B. Auto-inflammatory disease with hyperimmunoglobulinemia D of late onset. Ann Dermatol Venereol 2006;133:369-74.
- 25. Rodrigues F, Philit JB, Giurgea I, Anglicheau D, Roux JJ, Hoyeau N, et al. AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature. Semin Arthritis Rheum 2020;50:1370-3.
- 26. Drenth JP, Haagsma CJ, van der Meer JW. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore) 1994;73:133-44.
- 27. Karacan ‹, Balamir A, U¤urlu S, Aydın AK, Everest E, Zor S, et al. Diagnostic utility of a targeted next- generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: A multi-center study. Rheumatol Int 2019;39:911-9.
- 28. Ryan JG, Goldbach-Mansky R. The spectrum of autoinflammatory diseases: Recent bench to bedside observations. Curr Opin Rheumatol 2008;20:66-75.
| APA | Yıldız F, DİNKÇİ S, ERKEN E (2023). Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. , 238 - 248. 10.46497/ArchRheumatol.2023.9468 |
| Chicago | Yıldız Fatih,DİNKÇİ SUZAN,ERKEN EREN Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. (2023): 238 - 248. 10.46497/ArchRheumatol.2023.9468 |
| MLA | Yıldız Fatih,DİNKÇİ SUZAN,ERKEN EREN Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. , 2023, ss.238 - 248. 10.46497/ArchRheumatol.2023.9468 |
| AMA | Yıldız F,DİNKÇİ S,ERKEN E Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. . 2023; 238 - 248. 10.46497/ArchRheumatol.2023.9468 |
| Vancouver | Yıldız F,DİNKÇİ S,ERKEN E Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. . 2023; 238 - 248. 10.46497/ArchRheumatol.2023.9468 |
| IEEE | Yıldız F,DİNKÇİ S,ERKEN E "Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study." , ss.238 - 248, 2023. 10.46497/ArchRheumatol.2023.9468 |
| ISNAD | Yıldız, Fatih vd. "Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study". (2023), 238-248. https://doi.org/10.46497/ArchRheumatol.2023.9468 |
| APA | Yıldız F, DİNKÇİ S, ERKEN E (2023). Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. Archives of Rheumatology, 38(2), 238 - 248. 10.46497/ArchRheumatol.2023.9468 |
| Chicago | Yıldız Fatih,DİNKÇİ SUZAN,ERKEN EREN Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. Archives of Rheumatology 38, no.2 (2023): 238 - 248. 10.46497/ArchRheumatol.2023.9468 |
| MLA | Yıldız Fatih,DİNKÇİ SUZAN,ERKEN EREN Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. Archives of Rheumatology, vol.38, no.2, 2023, ss.238 - 248. 10.46497/ArchRheumatol.2023.9468 |
| AMA | Yıldız F,DİNKÇİ S,ERKEN E Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. Archives of Rheumatology. 2023; 38(2): 238 - 248. 10.46497/ArchRheumatol.2023.9468 |
| Vancouver | Yıldız F,DİNKÇİ S,ERKEN E Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. Archives of Rheumatology. 2023; 38(2): 238 - 248. 10.46497/ArchRheumatol.2023.9468 |
| IEEE | Yıldız F,DİNKÇİ S,ERKEN E "Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study." Archives of Rheumatology, 38, ss.238 - 248, 2023. 10.46497/ArchRheumatol.2023.9468 |
| ISNAD | Yıldız, Fatih vd. "Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study". Archives of Rheumatology 38/2 (2023), 238-248. https://doi.org/10.46497/ArchRheumatol.2023.9468 |
