Molecular and genetic studies of the predisposition to the development of psoriasis among the population of the Russian Federation: a study of polymorphisms of TNFAIP3, TNIP1, TYK2 and REL genes

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Abstract


Goal. To study the role of polymorphic variants of genes encoding proteins of the signaling pathway of the nuclear transcription factor kappa-B, NF-kB (TNFAIP3 (rs610604), TNIP1 (rs17728338), TYK2 (rs12720356) and REL (rs702873)) in the predisposition to psoriasis among the Caucasian population of the Russian Federation. Materials and methods. The authors studied markers of the predisposition to the development of psoriasis such as TNFAIP3 (rs610604), TNIP1 (rs17728338), TYK2 (rs12720356) and REL (rs702873) using Real-Time PCR methods and allele-specific oligonucleotide probes and PFLP (Restriction Fragment Length Polymorphism) assay in whole blood samples taken from psoriatic patients (n = 301). To compare the frequency of genotypes, the authors used data obtained as a result of the genotyping of DNAs taken from healthy volunteers (n = 109). Results. The authors analyzed particular features of the distribution of polymorphic variants of TNFAIP3 (rs610604), TNIP1 (rs17728338), TYK2 (rs1272035) и REL (rs702873) genes in a sample of 301 psoriatic patients and 109 healthy volunteers from the Russian Federation. They revealed reliable differences in the frequency of registration of genotypes of these genes. The authors also determined genotypes considered as risk factors with regard to the development of psoriasis (TNFAIP3-A/C, TNIP1-A/G, TNIP1-A/A and TYK2-T/T) as well as protector genotypes (TNFAIP3-A/Ä, REL-A/A and TYK2-T/G)

A. A. Kubanov

State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation

Author for correspondence.
Email: noemail@neicon.ru

Russian Federation

A. A. Mineyeva

State Research Center of Dermatovenereology and Cosmetology, Ministry of Healthcare of the Russian Federation

Email: mineeva@cnikvi.ru

Russian Federation

  1. Capon F., Burden D., Trembath R. et al. Psoriasis and Other Complex Trait Dermatoses: From Loci to Functional Pathways. J Invest Dermatol 2012; 132: 915-922.
  2. Chen H., Poon A., Yeung C. et al. A Genetic Risk Score Combining Ten Psoriasis Risk Loci Improves Disease Prediction. www.plosone.org 2011 April; 6: 4: e19454.
  3. Caamano J., Hunter С.А. NF-кВ family of transcription factors: central regulators of innate and adaptive immune functions. Clin Microbiol Rev 2002; 15: 414-429.
  4. Van Loo G., Beyaert R. Negative regulation of NF-kB and its involvement in rheumatoid arthritis. Arthritis Res Ther 2011; 13 (3): 221.
  5. Nair R.P., Duffin K.C., Helms C. et al. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet 2009; 41: 199-204.
  6. Westergaard M., Henningsen J., Johansen C. et al. Expression and localization of peroxisome proliferator-activated receptors and nuclear factor kappaB in normal and lesional psoriatic skin. J Invest Dermatol 2003; Nov; 121: 1104-1117.
  7. Tejasvi T., Stuart P.E., Chandran V. et al. TNFAIP3 gene polymorphisms are associated with response to TNF blockade in psoriasis. J Invest Dermatol 2012; 132: 593-600.
  8. Gervin K., Vigeland M.D., Mattingsdal M. et al. DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes. PLoS Genetics 2012 Jan; 8 (1): e1002454.
  9. Bataille V., Lens M., Spector T.D. The use of the twin model to investigate the genetics and epigenetics of skin diseases with genomic, transcriptomic and methylation data. J Eur Acad Dermatol Venereol 2012 Jan 14.
  10. Chandran V. The Genetics of Psoriasis and Psoriatic Arthritis. Clin Rev Allergy Immunol. 2012, Jan; 25.
  11. Mallbris L., Wolk K., Sanchez F. et al. HLA-Cw*0602 associates with a twofold higher prevalence of positive streptococcal throat swab at the onset of psoriasis: a case control study. BMC Dermatol 2009 May 29; 9: 5.
  12. Elder J.T., Bruce A.T., Gudjonsson J.E. et al. Molecular dissection of psoriasis: integrating genetics and biology. J Invest Dermatol 2010; 130: 1213-1226.
  13. Li W., Han J., Choi H.K. et al. Smoking and risk of incident psoriasis among women and men in the United States: a combined analysis. Am J Epidem 2012 Mar 1; 175 (5): 402-13.
  14. Wilson P.B., Bohjanen K.A., Ingraham S.J. et al. Psoriasis and physical activity: a review. J Eur Acad Dermatol Venereol 2012 Mar 5.
  15. Yang C.H., Murti A., Valentine W.J. et al. Interferon alpha activates NF-kappaB in JAK1-deficient cells through a TYK2-dependent pathway. J Biol Chem 2005 Jul 8; 280 (27): 25849-53.
  16. Tao J.H., Zou Y.F., Feng X.L. et al. Meta-analysis of TYK2 gene polymorphisms association with susceptibility to autoimmune and inflammatory diseases. Mol Biol Rep 2011 Oct; 38 (7): 4663-72.
  17. Sato K., Shiota M., Fukuda S. et al. Strong evidence of a combination polymorphism of the tyrosine kinase 2 gene and the signal transducer and activator of transcription 3 gene as a DNA-based biomarker for susceptibility to Crohn's disease in the Japanese population. J Clin Immunol 2009 Nov; 29 (6): 815-25.
  18. Järvinen T.M., Hellquist A., Koskenmies S. et al. Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated with discoid and subacute cutaneous lupus erythematosus. Exp Dermatol 2010 Feb; 19 (2): 123-31.
  19. Li P., Chang Y.K., Shek K.W. et al. Lack of association of TYK2 gene polymorphisms in Chinese patients with systemic lupus erythematosus. J Rheumatol. 2011 Jan; 38 (1): 177-8.
  20. Ishizaki M., Muromoto R., Akimoto T. et al. TYK2 is a therapeutic target for psoriasis-like skin inflammation. Int Immunol 2013; Dec 17.
  21. Yang C.H., Murti A., Valentine W.J. et al. Interferon alpha activates NF-kappaB in JAK1-deficient cells through a TYK2-dependent pathway. J Biol Chem 2005 Jul 8; 280 (27): 25849-53

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