Yıl: 2020 Cilt: 58 Sayı: 2 Sayfa Aralığı: 142 - 147 Metin Dili: İngilizce DOI: 10.4274/haseki.galenos.2020.5783 İndeks Tarihi: 01-11-2020

Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?

Öz:
Aim: Ankylosing spondylitis (AS) is an autoimmune diseasecaused by chronic inflammatory response. Complement systemis the major component of the innate immune defence. Inthis study, we investigated the potential association betweencomplement factor H (CFH) gene Tyr402His variant (rs1061170)with AS in a Turkish population.Methods: Seventy-eight AS patients and 80 healthy individualswere enrolled in the present study as case and control subjects,respectively. The Tyr402His variant of CFH gene was analysed byPCR-RFLP method.Results: There was no statistically significant difference between ASpatients and healthy controls in terms of CFH Tyr402His genotypeand allele frequencies. However, the visual analogue scale (VAS)daytime and the AS Quality of Life (ASQoL) were significantlydifferent according to CFH Tyr402His genotype distribution(p=0.032 and p=0.036, respectively). VAS of daytime and ASQoLwere higher in subjects carrying Tyr402His variant Tyr/Tyr + Tyr/Hisgenotypes compared to those carrying His/His genotype.Conclusion: This is the first study evaluating the associationbetween CFH Tyr402His and susceptibility to AS in a Turkishpopulation. Although CFH Tyr402His variant was not considereda candidate gene for AS susceptibility in our samples, someclinical findings seem to be associated with genotype distributionof CFH Tyr402His variant.
Anahtar Kelime:

Kompleman Faktör H Tyr402His Varyant Ankilozan Spondilitin Olası Bir Nedeni Olabilir mi?

Öz:
Amaç: Ankilozan spondilit (AS) kronik enflamatuar cevabın neden olduğu otoimmün bir hastalıktır. Kompleman sistemi doğal bağışıklığın esas savunma sistemidir. Bu çalışmada, Türk toplumunda kompleman faktör H (CFH) geni Tyr402His varyantı (rs1061170) ve AS arasındaki olası ilişkiyi araştırdık. Yöntemler: Bu çalışmaya 78 AS hastası ve 80 sağlıklı birey, olgu ve kontrol bireyleri olarak alındı. CFH Tyr402His varyantı PPCRRFLP yöntemi ile analiz edildi. Bulgular: AS hastaları ve sağlıklı kontroller arasında CFH Tyr402His genotip ve alel sıklıkları açısından istatistiksel olarak önemli fark yoktu. Ancak, gündüz vizüel analog skala (VAS) ve AS Yaşam Kalitesi Ölçeği (ASQoL) CFH Tyr402His genotip dağılımına göre önemli derecede farklıydı (p=0.032, p=0.036, sırasıyla). Gündüz VAS ve ASQol Tyr402His varyantı Tyr/Tyr + Tyr/His genotiplerini taşıyan kişilerde His/His genotipi taşıyanlara göre daha yüksekti. Sonuç: Bu, Türk toplumunda CFH Tyr402His varyantı ve AS yatkınlığı arasındaki ilişkiyi değerlendiren ilk çalışmadır. CFH Tyr402His varyantı bizim örneklerde AS yatkınlığı için aday bir gen olmasa da, bazı klinik bulgular CFH Tyr402His varyantın genotip dağılımı ile ilişkili görünmektedir.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
  • 1. Wang J, Li H, Wang J, Gao X. Association between ERAP1 gene polymorphisms and ankylosing spondylitis susceptibility in Han population. Int J Clin Exp Pathol 2015;8:11641-46.
  • 2. Stolwijk C, Essers I, van Tubergen A, et al. The epidemiology of extra-articular manifestations in ankylosing spondylitis: a population-based matched cohort study. Ann Rheum Dis 2015;74:1373-8.
  • 3. Fan D, Liu L, Ding N, et al. Male sexual dysfunction and ankylosing spondylitis: a systematic review and metaanalysis. J Rheumatol 2015;42:252-7.
  • 4. Laval SH, Timms A, Edwards S, et al. Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci. Am J Hum Genet 2001;68: 918-26.
  • 5. Sveaas SH, Berg IJ, Provan SA, et al. Circulating levels of inflammatory cytokines and cytokine receptors in patients with ankylosing spondylitis: a cross-sectional comparative study. Scand J Rheumatol 2015;44:118-24.
  • 6. Ricklin D, Hajishengallis G, Yang K, Lambris JD. Complement: a key system for immune surveillance and homeostasis. Nat Immunol 2010;11:785-97.
  • 7. Donoso LA, Kim D, Frost A, Callahan A, Hageman G. The role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol 2006;51:137-52.
  • 8. Kardys I, Klaver CC, Despriet DD, et al. A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study. J Am Coll Cardiol 2006;47:1568-75.
  • 9. Ricklin D, Lambris JD. Complement-targeted therapeutics. Nat Biotechnol 2007;25:1265-75.
  • 10. van der Linden S, Valkenburg HA, Cats A. Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 1984;27:361-8.
  • 11. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
  • 12. Zhang Z, Yu D, Yuan J, Guo Y, Wang H, Zhang X. Cigarette smoking strongly modifies the association of complement factor H variant and the risk of lung cancer. Cancer Epidemiol 2012;36:e111-5.
  • 13. Maksymowych WP. Disease modification in ankylosing spondylitis. Nat Rev Rheumatol 2010;6:75-81.
  • 14. Noris M, Remuzzi G. Overview of Complement Activation and Regulation. Semin Nephrol 2013;33:479-92.
  • 15. Maksymowych WP. Disease modification in ankylosing spondylitis. 2010;6:75-81.
  • 16. Aiyaz M, Lupton MK, Proitsi P, Powell JF, Lovestone S. Complement activation as a biomarker for Alzheimer’s disease. Immunobiology 2012;217:204-15.
  • 17. Muzio GD, Perricone C, Ballanti E, et al. Complement System and Rheumatoid Arthritis: Relationships with Autoantibodies, Serological, Clinical Features, and Anti-TNF Treatment 2011;24: 357-66.
  • 18. Ornstein BW, Atkinson JP, Densen P. The complement system in pediatric systemic lupus erythematosus, atypical hemolytic uremic syndrome, and complocentric membranoglomerulopathies. Current Opinion in Rheumatology 2012;24:522-29.
  • 19. Mödinger Y, Löffler B, Huber-Lang M, Ignatius A. Complement involvement in bone homeostasis and bone disorders. Semin Immunol 2018;37:53-65.
  • 20. Wouters D, Voskuyl AE, Molenaar ET, Dijkmans BA, Hack CE. Evaluation of classical complement pathway activation in rheumatoid arthritis: measurement of C1q-C4 complexes as novel activation products. Arthritis Rheum 2006;54:1143-50.
  • 21. Moxley G, Ruddy S. Elevated C3 anaphylatoxin levels in synovial fluids from patients with rheumatoid arthritis. Arthritis Rheum 1985;28:1089-95.
  • 22. Jose PJ, Moss IK, Maini RN, Williams TJ. Measurement of the chemotactic complement fragment C5a in rheumatoid synovial fluids by radioimmunoassay: role of C5a in the acute inflammatory phase. Ann Rheum Dis 1990;49:747-52.
  • 23. Myers LK, Rosloniec EF, Cremer MA, Kang AH. Collageninduced arthritis, an animal model of autoimmunity. Life Sci 1997;61:1861-78.
  • 24. Walport MJ. Complement. First of two parts. N Engl J Med. 2001;344:1058-66.
  • 25. Yang C, Ding P, Wang Q, et al. Inhibition of Complement Retards Ankylosing Spondylitis Progression. Sci Rep 2016;6:34643.
  • 26. Markiewski MM, Lambris JD. The role of complement in inflammatory diseases from behind the scenes into the spotlight. Am J Pathol 2007;171:715-27.
  • 27. Male DA, Ormsby RJ, Ranganathan S, Giannakis E, Gordon DL. Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes. Mol Immunol 2000;37:41-52.
  • 28. Rodríguez de Córdoba S, Esparza-Gordillo J, Goicoechea de Jorge E, Lopez-Trascasa M, Sánchez-Corral P. The human complement factor H: functional roles, genetic variations and disease associations. Mol Immunol 2004;41:355-67.
  • 29. Lauer N, Mihlan M, Hartmann A, et al. Complement regulation at necrotic cell lesions is impaired by the agerelated macular degeneration-associated factor-H His402 risk variant. J Immunol 2011;187:4374-83.
  • 30. Scholl HP, Charbel Issa P, Walier M, et al. Systemic complement activation in age-related macular degeneration. PloS One 2008;3:e2593.
  • 31. Trouw LA, Böhringer S, Daha NA, et al. The major risk alleles of age-related macular degeneration (AMD) in CFH do not play a major role in rheumatoid arthritis (RA). Clin Exp Immunol 2011;166:333-7.
  • 32. Dieguez-Gonzalez R, Akar S, Calaza M, et al. Lack of association with rheumatoid arthritis of selected polymorphisms in 4 candidate genes: CFH, CD209, eotaxin-3, and MHC2TA. J Rheumatol 2009;36:1590-5.
APA pehlivan s, Akaltun M, PEHLİVAN M, Gursoy S, Nursal A (2020). Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?. , 142 - 147. 10.4274/haseki.galenos.2020.5783
Chicago pehlivan sacide,Akaltun Mazlum Serdar,PEHLİVAN MUSTAFA,Gursoy Savas,Nursal Ayse Feyda Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?. (2020): 142 - 147. 10.4274/haseki.galenos.2020.5783
MLA pehlivan sacide,Akaltun Mazlum Serdar,PEHLİVAN MUSTAFA,Gursoy Savas,Nursal Ayse Feyda Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?. , 2020, ss.142 - 147. 10.4274/haseki.galenos.2020.5783
AMA pehlivan s,Akaltun M,PEHLİVAN M,Gursoy S,Nursal A Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?. . 2020; 142 - 147. 10.4274/haseki.galenos.2020.5783
Vancouver pehlivan s,Akaltun M,PEHLİVAN M,Gursoy S,Nursal A Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?. . 2020; 142 - 147. 10.4274/haseki.galenos.2020.5783
IEEE pehlivan s,Akaltun M,PEHLİVAN M,Gursoy S,Nursal A "Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?." , ss.142 - 147, 2020. 10.4274/haseki.galenos.2020.5783
ISNAD pehlivan, sacide vd. "Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?". (2020), 142-147. https://doi.org/10.4274/haseki.galenos.2020.5783
APA pehlivan s, Akaltun M, PEHLİVAN M, Gursoy S, Nursal A (2020). Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?. Haseki Tıp Bülteni, 58(2), 142 - 147. 10.4274/haseki.galenos.2020.5783
Chicago pehlivan sacide,Akaltun Mazlum Serdar,PEHLİVAN MUSTAFA,Gursoy Savas,Nursal Ayse Feyda Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?. Haseki Tıp Bülteni 58, no.2 (2020): 142 - 147. 10.4274/haseki.galenos.2020.5783
MLA pehlivan sacide,Akaltun Mazlum Serdar,PEHLİVAN MUSTAFA,Gursoy Savas,Nursal Ayse Feyda Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?. Haseki Tıp Bülteni, vol.58, no.2, 2020, ss.142 - 147. 10.4274/haseki.galenos.2020.5783
AMA pehlivan s,Akaltun M,PEHLİVAN M,Gursoy S,Nursal A Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?. Haseki Tıp Bülteni. 2020; 58(2): 142 - 147. 10.4274/haseki.galenos.2020.5783
Vancouver pehlivan s,Akaltun M,PEHLİVAN M,Gursoy S,Nursal A Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?. Haseki Tıp Bülteni. 2020; 58(2): 142 - 147. 10.4274/haseki.galenos.2020.5783
IEEE pehlivan s,Akaltun M,PEHLİVAN M,Gursoy S,Nursal A "Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?." Haseki Tıp Bülteni, 58, ss.142 - 147, 2020. 10.4274/haseki.galenos.2020.5783
ISNAD pehlivan, sacide vd. "Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?". Haseki Tıp Bülteni 58/2 (2020), 142-147. https://doi.org/10.4274/haseki.galenos.2020.5783