31Dec 2016

STAT4 (RS7582694) GENE POLYMORPHISM IN A GROUP OF EGYPTIAN FEMALE SYSTEMIC LUPUS ERYTHEMATOSUS PATIENTS.

  • Clinical & Chemical Pathology department, Faculty of Medicine, Benha University, Benha, Egypt.
  • Rheumatology department, Faculty of Medicine, Benha University, Benha, Egypt.
  • Quwisna Central Hospital, Ministry of Health,Quwisna, Egypt.
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Systemic lupus erythematosus (SLE) is a chronic complex autoimmune disease. It results from interaction of genetic, environmental and hormonal factors. Genome Wide Association (GWA) studies have proved the association of multiple STAT4 gene polymorphisms with SLE in different populations. Subjects & methods: The study enrolled 50 Egyptian females, classified into 2 groups: 30 SLE patients and 20 apparently healthy individuals. STAT4 gene C>G (rs7582694) polymorphism was analyzed by PCR-RFLP (Polymerase chain reaction - Restriction fragment length polymorphism) technique. Results: The frequency of minor allele C of the STAT4 (rs7582694) polymorphism was higher in SLE patients than control group but with no statistically significant difference between the two studied groups (P=0.518). There was neither association between genotypes and SLE nor SLEDAI activity grades. Conclusion:STAT4 gene C>G (rs7582694) polymorphism is not associated with the predisposition to SLE or disease activity in the studied group of Egyptian SLE patients.

  1. Alarcón-Riquelme, M. E., Ziegler, J. T., Molineros, J., Howard, T. D., et al. (2016): GWAS in an Amerindian ancestry population reveals novel systemic lupus erythematosus risk loci and the role of European admixture.Arthritis & Rheumatology (Hoboken, NJ),68(4):932-943.
  2. BeltránRamírez, O., Mendoza Rincón, J. F., Barbosa Cobos, R. E., Alemán, Á.,Ramírez Bello, J. (2016):STAT4 confers risk for rheumatoid arthritis and systemic lupus erythematosus in Mexican patients. Lett.,175:40-43.
  3. Bolin, K., Sandling, J. K., Zickert, A., Jönsen, A., et al. (2013): Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis. PLoS One., 8(12):e84450.
  4. Choi, J., Kim, S. T. and Craft, J. (2012): The Pathogenesis of Systemic Lupus Erythematosus – An Update.Current opinion in immunology, 24(6):651-657.
  5. Ciccacci, C., Perricone, C., Ceccarelli, F., Rufini, F., et al. (2014): A Multi-locus Genetic Study in a Cohort of Italian SLE Patients Confirms the Association with STAT4 Gene and Describes a New Association with HCP5 Gene. Crispin J, (ed.).PLoS ONE, 9(11):e111991.
  6. Cui, Y., Sheng, Y. and Zhang, X. (2013):Genetic susceptibility to SLE: recent progress from GWAS. J Autoimmun., 41:25-33.
  7. Delgado-Vega, A., Sánchez, E., Löfgren, S., Castillejo-López, C. andAlarcón-Riquelme, M. E. (2010): Recent Findings on Genetics of Systemic Autoimmune Diseases.Current opinion in immunology, 2(6):698-705.
  8. Deng, Y. andTsao, B. P. (2010): Genetic susceptibility to systemic lupus erythematosus in the genomic era.Nat. Rev.Rheumatol., 6(12): 683-692.
  9. Gestermann, N.,Mekinian, A., Comets, E., Loiseau, P., et al. (2010):STAT4 is a confirmed genetic risk factor for Sjögren's syndrome and could be involved in type 1 interferon pathway signaling. Genes Immun., 11(5): 432-438.
  10. Glas, J., Seiderer, J., Nagy, M., Fries, C., et al. (2010): Evidence forSTAT4as a common autoimmune gene: rs7574865 is associated with colonic crohn’s disease and early disease onset. Unutmaz, D., (ed.).PLoS ONE, 5(4):e10373.
  11. Goropevšek, A.,Holcar, M.andAv?in, T. (2016): The Role of STAT Signaling Pathways in the Pathogenesis of Systemic Lupus Erythematosus. Clin Rev Allergy Immunol.,[Epub ahead of print], pubmed: 27216430.
  12. Graham, R. R.,Cotsapas, C.,Davies, L.,Hackett, R., et al. (2008): Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.Nat Genet., 40:1059–1061.
  13. Han, J. W., Zheng, H. F.,Cui, Y.,Sun, L. D.,et al. (2009): Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Genet.,41:1234–1237.
  14. Harley, J. B.,Alarcón-Riquelme, M. E.,Criswell, L.A.,Jacob, C. O., et al. (2008): Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants inITGAM,PXK, KIAA1542 and other loci. Genet.,40:204–210.
  15. Hellquist, A., Sandling, J. K., Zucchelli, M., Koskenmies, S., et al. (2010): Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort. Rheum. Dis., 69(5):883-6.
  16. Hu, W., Wu, S., Zhang, Y., Sigdel, K. R., Lin, Y. andZhong, H. (2016): Association between Toll-Like Receptor 4 Polymorphisms and Systemic Lupus Erythematosus Susceptibility: A Meta-Analysis.BioMed. Research International, 2016:7842587.
  17. Li, P.,Cao, C.,Luan, H.,Li, C., et al. (2011):Association of genetic variations in the STAT4 and IRF7/KIAA1542 regions with systemic lupus erythematosus in a Northern Han Chinese population. Immunol.,72(3):249-255.
  18. Luan, H., Li, P., Cao, C., Li, C., et al. (2012):A single-nucleotide polymorphism of the STAT4 gene is associated with systemic lupus erythematosus (SLE) in female Chinese population. Int.,32(5):1251-1255.
  19. Nordmark, G., Kristjansdottir, G., Theander, E., Eriksson, P., et al. (2009): Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome. Genes Immun.,10(1):68-76.
  20. Piotrowski, P.,Lianeri, M., Wudarski, M., Olesi?ska, M.andJagodzi?ski, P. P. (2012): Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population. Biol. Rep., 39(9):8861-8866.
  21. Sigurdsson, S., Nordmark, G., Garnier, S., Grundberg, E., et al. (2008): A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5. Mol. Genet.,17(18):2868-2876.
  22. Tan, E. M., Cohen, A. D. and Fries, J. F. (1982): The 1982 revised criteria for the classification of systemic lupuserythematosus. Arthritis Rheum., 25:1271–1277.
  23. Yang, W.,Shen, N.,Ye, D. Q.,Liu, Q., et al. (2010): Genome-wide association study in Asian populations identifies variants in ETS1 andWDFY4 associated with systemic lupus erythematosus.PLoS Genet.,6:e1000841.
  24. Zhou, T. B., Jiang, Z. P., Qin, Y. H.andZhou, J. F. (2014): Retracted Association of STAT4 gene polymorphism with systemic lupus erythematosus / lupus nephritis risk. Nephrology (Carlton),doi: 10.1111/nep.12264. Epub 2014 Apr 16.
  25. Zhu, H.,Liu, J., Zhang, H., Wang, Z., et al. (2013):Polymorphisms of STAT4 and the risk of inflammatory bowel disease: A case-control study in Chinese Han population. Rep.,1(2): 320-324.
 

[Mona El-Toukhy, Ibrahim Rageh, Eman Abdel-Gwad, Amal Fathy, Ola El-Shimi and Marian Roshdy. (2016); STAT4 (RS7582694) GENE POLYMORPHISM IN A GROUP OF EGYPTIAN FEMALE SYSTEMIC LUPUS ERYTHEMATOSUS PATIENTS. Int. J. of Adv. Res. 4 (Dec). 1837-1842] (ISSN 2320-5407). www.journalijar.com

Dr. Ola El-Shimi

DOI:

Article DOI: 10.21474/IJAR01/2590      
DOI URL: https://dx.doi.org/10.21474/IJAR01/2590

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