Journals / Türk Biyokimya Dergisi / 2014 / Cilt: 39 - Sayı: 4

[association of HLA-B27, MEFV gene mutations, ERAP1, IL12B and IL23R gene polymorphisms with ankylosing spondylitis]

Ankilozan spondilit ile HLA-B27, MEFV gen mutasyonları, ERAP1, IL12B ve IL23R gen polimorfizmleri arasındaki ilişki

Pages
482–487
Publication Date
2022-11-05
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) scores were calculated.Results: Our results confirmed that HLA-B27 was strongly associated with AS (69% vs 7% in controls) (p

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Objective: Genetic factors have an important role in the pathogenesis of ankylosing spondylitis (AS).
📊
Key Findings & Data:The aim of this study was to analyse the association of HLA-B27, MEFV mutations, IL12B, IL23R and ERAP1 polymorphisms in Turkish patients with ankylosing spondylitis.Methods: One hundred AS patients and 100 healthy controls were examined for HLA-B27, 12 common MEFV mutations, IL12B (rs3213120), IL23R (rs11209026), and ERAP1 (rs30187) polymorphisms (SNPs) by allele specific PCR, revers hybridization and sequencing techniques.
💡
Conclusion & Impact:Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) scores were calculated.Results: Our results confirmed that HLA-B27 was strongly associated with AS (69% vs 7% in controls) (p
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Objective: Genetic factors have an important role in the pathogenesis of ankylosing spondylitis (AS). The aim of this study was to analyse the association of HLA-B27, MEFV mutations, IL12B, IL23R and ERAP1 polymorphisms in Turkish patients with ankylosing spondylitis.Methods: One hundred AS patients and 100 healthy controls were examined for HLA-B27, 12 common MEFV mutations, IL12B (rs3213120), IL23R (rs11209026), and ERAP1 (rs30187) polymorphisms (SNPs) by allele specific PCR, revers hybridization and sequencing techniques. Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) scores were calculated.Results: Our results confirmed that HLA-B27 was strongly associated with AS (69% vs 7% in controls) (p

Özet

Amaç: Ankilozan spondilitin patogenezinde genetik faktörler önemli bir role sahipitir. Bu çalışmanın amacı, HLA-B27, MEFV gen mutasyonları, IL12B, Il23R ve ERAP1 gen polimorfizmleri ile Türk AS hastaları arasındaki ilişkiyi belirlemektir.Metod: Yüz AS hastası ve 100 sağlıklı kontrolde, HLA-B27, sık görülen 12 MEFV gen mutasyonu, IL12B (rs3213120), IL23R (rs11209026) ve ERAP1 (rs30187) gen polimorfizmleri allelle özgü polimeraz zincir reaksiyonu (PCR), revers hibridizasyon ve DNA dizi analiz teknikleri ile analiz edildi. Hastalığın aktivitesi BASDAI (Bath Ankylosing Spondylitis Disease Activity Index) ve BASFI (Bath Ankylosing Spondylitis Functional Index) skorlaması ile analiz edildi.Bulgular: Bu çalışma HLA-B27 ile AS arasındaki kuvvetli ilişkiyi bir kere daha doğrulamıştır (p

🔖

Cite This Article

ÇOLAK, R., HAYRAN, M., PEKACAR, F. S., YILMAZ, E., AKDOĞAN, A. (2022). [association of HLA-B27, MEFV gene mutations, ERAP1, IL12B and IL23R gene polymorphisms with ankylosing spondylitis]. Türk Biyokimya Dergisi, Cilt: 39 - Sayı: 4, 482–487. https://ajindex.com/articles/621212

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (15)

  1. Bond D. Ankylosing spondylitis: diagnosis and management. Nurs Stand 2013; 28(16-18):52-60
  2. Dean LE, Jones GT, MacDonald AG, Downham C, Sturrock RD, et al. Global prevalence of ankylosing spondylitis. Rheumatology (Oxford) 2014;53(4):650-7
  3. Onen F, Akar S, Birlik M, Sari I, Khan MA, et al. Prevalence of ankylosing spondylitis and related spondyloarthritides in an urban area of Izmir, Turkey. J Rheumatol 2008; 35(2):305-9
  4. Reveille JD. Recent studies on the genetic basis of ankylosing spondylitis. Curr Rheumatol Rep 2009; 11(5):340-8
  5. Yang T, Duan Z, Wu S, Liu S, Zeng Z, et al. Association of HLAB27 genetic polymorphisms with ankylosing spondylitis susceptibility worldwide: a meta-analysis. Mod Rheumatol 2014; 24(1):150-61
  6. Uchanska-Ziegler B, Ziegler A, Schmieder P. Structural and dynamic features of HLA-B27 subtypes. Curr Opin Rheumatol 2013; 25(4):411-8
  7. Khan MA. Polymorphism of HLA-B27: 105 subtypes currently known. Curr Rheumatol Rep 2013; 15(10):362
  8. Qi J, Li Q, Lin Z, Liao Z, Wei Q, et al. Higher risk of uveitis and dactylitis and older age of onset among ankylosing spondylitis patients with HLA-B*2705 than patients with HLA-B*2704 in the Chinese population. Tissue Antigens 2013; 82(6):380-6
  9. Acar M, Cora T, Tunc R, Acar H. HLA-B27 subtypes in Turkish patients with ankylosing spondylitis and healthy controls. Rheumatol Int 2012; 32(10):3103-5
  10. Gunal EK, Sarvan FO, Kamali S, Gul A, Inanc M, et al. Low frequency of HLA-B27 in ankylosing spondylitis patients from Turkey. Joint Bone Spine 2008; 75(3):299-302
  11. Brown MA, Laval SH, Brophy S, Calin A. Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis. Ann Rheum Dis 2000; 59(11):883-6
  12. Australo-Anglo-American Spondyloarthritis Consortium (TASC), Reveille JD, Sims AM, Danoy P, Evans DM, Leo P, et al. Genomewide association study of ankylosing spondylitis identifies nonMHC susceptibility loci. Nat Genet 2010; 42(2):123-7
  13. Lin Z, Bei JX, Shen M, Li Q, Liao Z, et al. A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. Nat Genet 2011; 44(1):73-7
  14. Guo C, Xia Y, Yang Q, Qiu R, Zhao H, et al. Association of the ANTXR2 gene polymorphism and ankylosing spondylitis in Chinese Han. Scand J Rheumatol 2012; 41(1):29-32
  15. International Genetics of Ankylosing Spondylitis Consortium (IGAS), Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, et al. Identification of mu