Journals / Nöropsikiyatri Arşivi / 2020 / Cilt: 57 - Sayı: 4

Assessment of IL-7RA T244I Polymorphism as a Risk Factor of MultipleSclerosis in Turkish Population

IL-7RA T244I Polimorfizminin Türk Toplumunda Multipl Skleroz Risk Faktörü Olarak Değerlendirilmesi

Pages
280–282
Publication Date
2022-10-19
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)

These inconsistent results suggest that the role of this polymorphism in the development of disease is associated with ethnicity.Methods: We investigated rs6897932 polymorphisms in a large cohort of patients with MS and healthy controls in a turkish population.Results: In our study, there were no significant differences in genotype frequencies in the IL-7RA rs6897932 polymorphism and no significant difference between C and T alleles in patients with MS and controls.Conclusion: This study is the first to evaluate the risk of the rs6897932 polymorphism in turkish patients with MS.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Introduction: The T244I variant of the IL-7RA gene, rs6897932, is one of the first polymorphisms found to be associated with the development of multiple sclerosis (MS).
📊
Key Findings & Data:Although several studies provided evidence for the association of MS and this variant, other studies could not confirm this result.
💡
Conclusion & Impact:These inconsistent results suggest that the role of this polymorphism in the development of disease is associated with ethnicity.Methods: We investigated rs6897932 polymorphisms in a large cohort of patients with MS and healthy controls in a turkish population.Results: In our study, there were no significant differences in genotype frequencies in the IL-7RA rs6897932 polymorphism and no significant difference between C and T alleles in patients with MS and controls.Conclusion: This study is the first to evaluate the risk of the rs6897932 polymorphism in turkish patients with MS.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Introduction: The T244I variant of the IL-7RA gene, rs6897932, is one of the first polymorphisms found to be associated with the development of multiple sclerosis (MS). Although several studies provided evidence for the association of MS and this variant, other studies could not confirm this result. These inconsistent results suggest that the role of this polymorphism in the development of disease is associated with ethnicity.Methods: We investigated rs6897932 polymorphisms in a large cohort of patients with MS and healthy controls in a turkish population.Results: In our study, there were no significant differences in genotype frequencies in the IL-7RA rs6897932 polymorphism and no significant difference between C and T alleles in patients with MS and controls.Conclusion: This study is the first to evaluate the risk of the rs6897932 polymorphism in turkish patients with MS.

Özet

Amaç: IL-7RA’nın T244I varyantı olan rs6897932, multipl skleroz (MS)gelişme riski ile ilişkili bulunan ilk polimorfizmlerden biridir. Birçokçalışmada MS ve bu polimorfizmin birlikteliği kanıtlanmış olmaklabirlikte, bazı çalışmalar bu ilişkiyi doğrulayamamıştır. Çalışmalarıntutarsız sonuçları, hastalık gelişiminde bu polimorfizmin rolünün etnisiteile ilişkili olduğunu düşündürmektedir. Yöntem: Biz Türkiye’de, geniş bir MS hasta grubunda ve sağlıklıkontrollerde rs6897932 polimorfizmini araştırdık. Bulgular: Çalışmamızda, IL-7RA rs6897932 polimorfizmindeki genotipfrekanslarında anlamlı bir fark bulunmadı. Hasta ve kontrol gruplarıarasında C ve T allelleri arasında anlamlı bir fark yoktu. Tartışma: Bu çalışma, Türkiye’de yaşayan MS hastaları üzerinde rs6897932polimorfizmi ile hastalık ilişkisini değerlendiren ilk araştırmadır.

🔖

Cite This Article

ÜNSAL, M. A., MANUKYAN, N. Y., IŞIK, N., DİRESKENELİ, G. S. (2022). Assessment of IL-7RA T244I Polymorphism as a Risk Factor of MultipleSclerosis in Turkish Population. Nöropsikiyatri Arşivi, Cilt: 57 - Sayı: 4, 280–282. https://ajindex.com/articles/584641

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (13)

  1. Brück W. The pathology of multiple sclerosis is the result of focal inflammatory demyelination with axonal damage. J Neurol 2005
  2. v3–v9. [CrossRef] 2. Karampoor S, Zahednasab H, Etemadifar M, Keyvani H. The levels of soluble forms of CD21 and CD83 in multiple sclerosis. J Neuroimmunol 2018
  3. 11–14. [CrossRef] 3. Belbasis L, Bellou V, Evangelou E, Ioannidis JP, Tzoulaki I. Environmentalrisk factors and multiple sclerosis: an umbrella review of systematic reviews and meta-analyses. Lancet Neurol 2015
  4. 263–273. [CrossRef] 4. Ebers GC. Environmental factors and multiple sclerosis. Lancet Neurol 2008
  5. 268–277. [CrossRef] 5. Milo R, Kahana E. Multiple sclerosis: geoepidemiology, genetics and the environment. Autoimmun Rev 2010
  6. A387–A394. [CrossRef] 6. Tavakolpour S. Anti-interleukin and associated receptors monoclonal antibodies therapy in autoimmune diseases. Receptor Clin Invest 2016
  7. e1173. [CrossRef] 7. Gregory SG, Schmidt S, Seth P, Oksenberg JR, Hart J, Prokop A, Caillier SJ, Ban M, Goris A, Barcellos LF, Lincoln R, McCauley JL, Sawcer SJ, Compston DAS, Dubois B, Hauser SL, Garcia-Blanco MA, Pericak-Vance MA. Multiple Sclerosis Genetics Group. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet 2007
  8. 1083–1091. [CrossRef] 8. Booth DR, Arthur AT, Teutsch SM, Bye C, Rubio J, Armati PJ, Pollard JD, Heard RNS, Stewart GJ
  9. The Southern MS Genetics Consortium. Gene expression and genotyping studies implicate the interleukin 7 receptor in the pathogenesis of primary progressive multiple sclerosis. J Mol Med 2005
  10. 822–830. [CrossRef] 9. Zhang Z, Duvefelt K, Svensson F, Masterman T, Jonasdottir Bergman G, Salter H, Emahazion T, Hellgren D, Falk G, Olsson T, Hillert J, Anvret M. Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis. Genes Immun 2005
  11. 145–152. [CrossRef] 10. International Multiple Sclerosis Genetics Consortium, Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, de Bakker PI, Gabriel SB, Mirel DB, Ivinson AJ, Pericak-Vance MA, Gregory SG, Rioux JD, McCauley JL, Haines JL, Barcellos LF, Cree B, Oksenberg JR, Hauser SL. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 2007
  12. 927–929. [CrossRef] 11. Tavakolpour S. Interleukin 7 receptor polymorphisms and the risk of multiple sclerosis: A meta-analysis. Mult Scler Relat Dis 2016
  13. 66–73. [CrossRef] 12. Hartling HJ, Søre