The Association between Autoimmune Regulator (AIRE)-2075876 G/A Single Nucleotide Polymorphism in Rheumatoid Disease
Mohammed abo gabal, K., abd Elmonaam, S., Ahmed, M., Ali, S. (2021). The Association between Autoimmune Regulator (AIRE)-2075876 G/A Single Nucleotide Polymorphism in Rheumatoid Disease. EKB Journal Management System, 2(2), 88-103. doi: 10.21608/ejmr.2021.174672
Khadiga Mohammed abo gabal; Shaimaa abd Elmonaam; Maysoon Ahmed; shaimaa Ali. "The Association between Autoimmune Regulator (AIRE)-2075876 G/A Single Nucleotide Polymorphism in Rheumatoid Disease". EKB Journal Management System, 2, 2, 2021, 88-103. doi: 10.21608/ejmr.2021.174672
Mohammed abo gabal, K., abd Elmonaam, S., Ahmed, M., Ali, S. (2021). 'The Association between Autoimmune Regulator (AIRE)-2075876 G/A Single Nucleotide Polymorphism in Rheumatoid Disease', EKB Journal Management System, 2(2), pp. 88-103. doi: 10.21608/ejmr.2021.174672
Mohammed abo gabal, K., abd Elmonaam, S., Ahmed, M., Ali, S. The Association between Autoimmune Regulator (AIRE)-2075876 G/A Single Nucleotide Polymorphism in Rheumatoid Disease. EKB Journal Management System, 2021; 2(2): 88-103. doi: 10.21608/ejmr.2021.174672

The Association between Autoimmune Regulator (AIRE)-2075876 G/A Single Nucleotide Polymorphism in Rheumatoid Disease

Egyptian Journal of Medical Research
Article 8, Volume 2, Issue 2 - Serial Number 1, June 2021, Page 88-103  XML PDF (627.6 K)
Document Type: Original Article
DOI: 10.21608/ejmr.2021.174672
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Authors
Khadiga Mohammed abo gabal1; Shaimaa abd Elmonaam2; Maysoon Ahmed1; shaimaa Ali1
1Clinical Pathology Department, Faculty Of Medicine, Beni-Suef University, Egypt
2Rheumatology Department, Faculty Of Medicine, Beni-Suef University, Egypt
Abstract
Background: Rhuematoid Arthritis influences all aspects of life as it causes co-morbiditis in vascular,metabolic and articular aspects.There are many factors that contribute to development of RA as genetic and environmental factors. Objectives: to evaluate the association between single nucleotide polymorphism of AIRE gene (SNP rs2075876) and risk of RA in Egyptian patients. Methods:Acase control study conducted on 50 participants collected:30 previously    diagnosed rheumatoid arthritis according to ACR/EULAR critria (25 females and 5 males) and 20 healthy group age and sex matched controls. Participants were screened for routine laboratory investigations & immunological investigation as RF and anti-ccp and AIRE gene polymorphism by using real time polymerase chain reaction. On comparing the 2 groups (controls and cases)  Results: the results showed that there is statistically significant difference between cases and controls regarding SNP rs2075876 for the distribution of genotype and alleles. Therefore,we conclude that there is strong association between AIRE gene SNP rs2075876 and risk of rheumatoid arthritis.
Keywords
Rheumatoid arthritis; AIRE gene; SNP rs2075876 polymorphism; polymerase chain reaction
References
  1. McInnes, I. B., and Schett, G. (2017):Pathogenetic insights from the treatment of rheumatoid arthritis. The Lancet, 389(10086), 2328-2337.
  2. Jalil, S. F., Arshad, M., Bhatti, A., Ahmad, J., Akbar, F., Ali, S., and John, P. (2016): Rheumatoid arthritis: what have we learned about the causing factors? Pakistan journal of pharmaceutical sciences, 29(2).
  3. Alivernini, S., Tolusso, B., Ferraccioli, G., Gremese, E., Kurowska‐Stolarska, M., and McInnes, I. B. (2018): Driving chronicity in rheumatoid arthritis‐perpetuating role of myeloid.
  4. Suresh, S., and Shetty, P.(2018): Naturopathic And Dietary Interventions In The Management Of Rheumatoid Arthritis: A Case Study Report ,204-206.
  5. Crowson, C. S., et al. (2011). "The lifetime risk of adult‐onset rheumatoid arthritis and other inflammatory autoimmune rheumatic diseases." Arthritis & Rheumatism 63(3): 633-639.
  6. Dhawan, S. S., and Quyyumi, A. A. (2008): Rheumatoid arthritis and cardiovascular disease. Current atherosclerosis reports, 10(2), 128-133. 
  7. Abhishek, N., Parveen, S., Vishnupriya, V., and Gayathri, R. (2016):Treatment Models for Rheumatoid Arthritis-A Review. Journal of Pharmaceutical Sciences and Research, 8(6), 520.
  8. Conteduca, G., Indiveri, F., Filaci, G., and Negrini, S. (2018):  Beyond APECED: An update on the role of the autoimmune regulator gene (AIRE) in physiology and disease. Autoimmunity reviews.
  9. Anderson, M. S., and Su, M. A. (2016): AIRE expands: new roles in immune tolerance and beyond. Nature Reviews Immunology, 16(4), 247.
  10.  Pollock, P., Gartside, M., Dejeza, L., Powell, M., Mallon, M. A., Davies, H., . . . Trent, J. (2007): Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. Oncogene, 26(50), 7158.
  11.  Hobbs, R. P., DePianto, D. J., Jacob, J. T., Han, M. C., Chung, B.-M., Batazzi, A. S., . . . Ong, S. (2015):  Keratin-dependent regulation of Aire and gene expression in skin tumor keratinocytes. Nature genetics, 47(8), 933.
  12.  Cepeda, S., Cantu, C., Orozco, S., Xiao, Y., Brown, Z., Semwal, M. K., . . . Griffith, A. V. (2018): Age-Associated Decline in Thymic B Cell Expression of Aire and Aire-Dependent Self-Antigens. Cell reports, 22(5), 1276-1287.
  13. Žumer, K., Plemenitaš, A., Saksela, K., & Peterlin, B. M. (2011). Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription. Nucleic acids research, 39(18), 7908-7919.
  14. Träger, U., Sierro, S., Djordjevic, G., Bouzo, B., Khandwala, S., Meloni, A., . . . Simon, A. K. (2012): The immune response to melanoma is limited by thymic selection of self-antigens. PloS one, 7(4), e35005
  15. Terao, C., Yamada, R., Ohmura, K., Takahashi, M., Kawaguchi, T., Kochi, Y., Yukawa, N. (2011): The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population. Human molecular genetics, 20(13),
  16. Kay, J., & Upchurch, K. S. (2012). ACR/EULAR 2010 rheumatoid arthritis classification criteria. Rheumatology, 51(suppl_6), vi5-vi9.
  17.  Lundberg, K. (2018). i097 Autoimmunity to citrullinated proteins in the etiopathogenesis of rheumatoid arthritis, with focus on alpha-enolase and P gingivalis. Rheumatology, 57(suppl_3), key075. 097.
  18. Abbott, J. K., Huoh, Y.-S., Reynolds, P. R., Yu, L., Rewers, M., Reddy, M., . . . Gelfand, E. W. (2018). Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE). Journal of autoimmunity, 88, 114-120.
  19. Feng, Z.-J., Zhang, S.-L., Wen, H.-F., and Liang, Y. (2015): Association of rs2075876 polymorphism of AIRE gene with rheumatoid arthritis risk. Human immunology, 76(4), 281-285.
  20.   Shao, S., Li, X.-R., Cen, H., and Yin, Z.-S. (2014): Association of AIRE polymorphisms with genetic susceptibility to rheumatoid arthritis in a Chinese population. Inflammation, 37(2), 495-499.
  21. García-Lozano, J.-R., Torres-Agrela, B., Montes-Cano, M.-A., Ortiz- Fernández, L., Conde-Jaldón, M., Teruel, M., . . . González-Escribano, M.-F. (2013): Association of the AIRE gene with susceptibility to rheumatoid arthritis in a European population: a case control study. Arthritis research & therapy, 15(1), R11.
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