Study of the genetic factors predisposing to the development of psoriasis



Cite item

Full Text

Abstract

Background papers on psoriasis epidemiology, pathogenesis and genetics are presented. Special attention is given to genetic factors of the aptitude to psoriasis development. Were analysed researches, dedicated to the genome-wide screening of associations of polymorphic genetic locus with psoriasis development. Obtained results allow to reveal pathogenic psoriasis mechanisms, to forecast the character of the clinical course of the disease, as well as the efficiency of therapy and forecast the risk of psoriasis origination at patient’s relatives.

Full Text

Изучение генетических факторов предрасположенности к развитию псориаза
×

References

  1. Collins F.S., Green E.D., Guttmacher A.E. et al. A vision for the future of genomics research. Nature 2003 Apr 24; 422(6934):835-47.
  2. Свердлов Е.Д. Проблемы и перспективы молекулярной генетики. DJVU. Т. 1. М: Наука 2003; 427.
  3. Griffiths C.E., Barker J.N. Pathogenesis and clinical features of psoriasis. Lancet 2007 Jul 21; 370(9583):263-71.
  4. Stuart P.E., Nair R.P., Ellinghaus E. et al. Genome-wide association analysis identifies three psoriasis susceptibility loci. Nat Genet 2010; 42: 1000-1004.
  5. Griffiths C.E., Barker J.N. Pathogenesis and clinical features of psoriasis. Lancet 2007 Jul 21; 370(9583):263-71.
  6. Piruzian E., Bruskin S., Ishkin A. et al. Integrated network analysis of transcriptomic and proteomic data in psoriasis. BMC Syst Biol 2010 Apr 8; 4:41.
  7. Zhou X., Krueger J.G., Kao M.C.et al. Novel mechanisms of T-cell and dendritic cell activation revealed by profiling of psoriasis on the 63,100-element oligonucleotide array. Physiol Genomics 2003 Mar 18; 13(1):69-78.
  8. Gudjonsson J.E., Ding J., Johnston A. et al. Assessment of the psoriatic transcriptome in a large sample: additional regulated genes and comparisons with in vitro models. J Invest Dermatol 2010 Jul; 130(7):1829-40.
  9. Oka A., Mabuchi T., Ozawa A. et al. Current understanding of human genetics and genetic analysis of psoriasis. J Dermatol 2012 Mar; 39(3):231-41.
  10. Mee J.B., Johnson C.M., Morar N. et al. The psoriatic transcriptome closely resembles that induced by interleukin-1 in cultured keratinocytes: dominance of innate immune responses in psoriasis. Am J Pathol 2007 Jul; 171(1):32-
  11. Sebastiani P., Timofeev N., Dworkis D.A. et al. Genome-wide association studies and the genetic dissection of complex traits. Am J Hematol 2009 August; 84(8): 504-515.
  12. Song Q.H., Shen Z., Xing X.J. et al. An association study of single nucleotide polymorphisms of the FOXP3 intron-1 and the risk of Psoriasis vulgaris. Indian J Biochem Biophys 2012 Feb; 49(1):25-35.
  13. Nograles K.E., Davidovici B., Krueger J.G. New insights in the immunologic basis of psoriasis. Semin Cutan Med Surg. 2010 Mar; 29(1):3-9.
  14. Halprin K.M. Epidermal "turnover time"-a re-examination. Br J Dermatol 1972 Jan; 86(1):14-9.
  15. De Jongh G.J., Zeeuwen P.L., Kucharekova M. et al. High expression levels of keratinocyte antimicrobial proteins in psoriasis compared with atopic dermatitis. J Invest Dermatol 2005 Dec; 125(6):1163-73.
  16. Mansbridge J.N., Knapp A.M., Strefling A.M. Evidence for an alternative pathway of keratinocyte maturation in psoriasis from an antigen found in psoriatic but not normal epidermis. J Invest Dermatol 1984 Oct; 83(4):296-301.
  17. Pellegrini G., De Luca M., Orecchia G. et al. Expression, topography, and function of integrin receptors are severely altered in keratinocytes from involved and uninvolved psoriatic skin. J Clin Invest 1992 Jun; 89(6):1783-95.
  18. Guttman-Yassky E., Suarez-Farinas M., Chiricozzi A. et al. Broad defects in epidermal cornification in atopic dermatitis identified through genomic analysis. J Allergy Clin Immunol 2009 Dec; 124(6):1235-1244.
  19. Van Ruissen F., de Jongh G.J., Zeeuwen P.L. et al. Induction of normal and psoriatic phenotypes in submerged keratinocyte cultures. J Cell Physiol 1996 Aug; 168(2):442-52.
  20. Hu Z., Xiong Z., Xu X. et al. Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population. Hum Genet. 2012 Jul;131(7):1269-74
  21. Lowes M.A, Bowcock A.M, Krueger J.G. Pathogenesis and therapy of psoriasis. Nature 2007 Feb 22; 445(7130):866-73.
  22. Lowes M.A, Lew W., Krueger J.G. Current concepts in the immunopathogenesis of psoriasis. Dermatol Clin 2004 Oct; 22(4):349-69, vii.
  23. National Human Genome Research Insititute. A Catalog of Genome-wide Association Studies. Accessed September 7, 2011.
  24. Hebert H.L., Ali F.R., Bowes J. et al. Genetic Susceptibility to Psoriasis and Psoriatic Arthritis: Implications for Therapy. Br J Dermatol 2012 Mar; 166(3):474-82.
  25. Серов А.Н., Соболев В.В., Потекаев Н.Н. и др. Изменение экспрессии генов, участвующих в патогенезе псориатического процесса, под воздействием интерференционного тока. Клин дерматол и венерол 2010; 4: 4-9.
  26. Chandran V. The Genetics of Psoriasis and Psoriatic Arthritis. Indian Journal of Dermatology 2010 Apr-Jun; 55(2): 151-156.
  27. 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.
  28. 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. doi: 10.1111/j.1468-3083.2011.04444.x. [Epub ahead of print].
  29. National Human Genome Research Insititute / A Catalog of Genome-wide Association Studies. Accessed September 7, 2011.
  30. 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.
  31. Diluvio L., Vollmer S., Besgen P. et al. Identical TCR beta-chain rearrangements in streptococcal angina and skin lesions of patients with psoriasis vulgaris. J Immunol 2006 Jun 1; 176(11):7104-11.
  32. 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.
  33. 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. doi: 10.1111/j.
  34. Di Renzo L., Bianchi A., Saraceno R. et al. -174G/C IL-6 gene promoter polymorphism predicts therapeutic response to TNF-а blockers. Pharmacogenet Genomics 2012 Feb; 22(2):134-42.
  35. Jordan C.T., Cao L., Roberson E.D. et al. Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis. Am J Hum Genet 2012 May 4; 90(5):796-808.
  36. Armesto S., Santos-Juanes J., Galache-Osuna C. et al. Psoriasis and type 2 diabetes risk among psoriatic patients in a Spanish population. Australas J Dermatol 2012 May; 53(2):128-30.
  37. Potthoff A., Rasokat H., Brockmeyer N.H. HIV infection. Der Hautarzt 2012 Jan; 63(1):10-5.
  38. Fernandes S., Pinto G.M., Cardoso J. Particular clinical presentations of psoriasis in HIV patients. International Journal of STD & AIDS 2011 Nov; 22(11):653-4.
  39. Миронов К.О., Дунаева Е.А., Дрибноходова О.П. и др. Детекция генетических полиморфизмов с использованием системы генетического анализа на основе пиросеквенирования PyroMark Q24. Справочник заведующего КДЛ 2011;4.
  40. 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.
  41. 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.
  42. Довжанский С.И., Пинсон И.Я. Генетические и иммунные факторы в патогенезе псориаза. Росс. журн. кож. и вен. бол. 2006; 1: 14-19.
  43. Al Robaee A.A. Molecular genetics of Psoriasis. Int J Health Sciences 2010 Nov 4; 2: Dhu Al-Hijja 1431 H.
  44. Ameen M., Allen M. H., Fisher S. A. Corneodesmosin (CDSN) gene association with psoriasis vulgaris in Caucasian but not in Japanese populations. Clin Exp Dermatol 2005; 30: 414-418.
  45. Roberson E.D., Bowcock A.M. Psoriasis genetics: breaking the barrier. Trends Genet 2010 September; 26(9): 415-423.
  46. Gandhi G., Buttar B.S., Albert L. et al. Psoriasis-associated genetic polymorphism in North Indian population in the CCHCR1 gene and in a genomic segment flanking the HLA-C region. Dis Markers 2011 Jan 1; 31(6):361-70.
  47. Hundhausen C., Bertoni A., Mak R.K. et al. Allele-specific cytokine responses at the HLA-C locus: implications for psoriasis. J Invest Dermatol 2012 Mar; 132(3 Pt 1):635-41.
  48. Maher B. Personal genomes: the case of the missing heritability. Nature 2008;456:18-21.
  49. Nuytten H., Wlodarska I., Nackaerts K. et al. Accurate determination of copy number variations (CNVs): Application to the α- and β-defensin CNVs. J Immunol Methods 2009; 344: 35-44.
  50. Bowes J., Ho P., Flynn E. et al. Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort. Annals of the Rheumatic Diseases 2012 Feb. [Epub ahead of print]
  51. Galindo M.P., Bartlett B.L., Gewirtzman A. et al. Etanercept: an overview of its role in the treatment of psoriasis. Expert Opin Drug Metab Toxicol 2008 Mar; 4(3): 305-10.
  52. Rahman P., Elder J.T. Genetics of psoriasis and psoriatic arthritis: a report from the GRAPPA 2010 annual meeting. J rheumat 2012 Feb; 39(2):431-3.
  53. Kochan G., Krojer T., Harvey D. et al.Crystal structures of the endoplasmic reticulum aminopeptidase-1 (ERAP1) reveal the molecular basis for N-terminal peptide trimming. Proc nat Acad Sci USA 2011 May 10; 108(19):7745-50.
  54. Chiu H.Y., Huang P.Y., Jee S.H. et al. HLA polymorphism among Chinese patients with chronic plaque psoriasis: subgroup analysis. Br J Dermatol 2012 Feb; 166(2):288-97.
  55. Strange A, Capon F, Spencer CC et al. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nature Genetics 2010 Nov; 42(11):985-90.
  56. Wu J., Chen F., Zhang X. et al. Association of MIF promoter polymorphisms with psoriasis in a Han population in northeastern China. J Dermatol Sci 2009 Mar; 53(3):212-5.
  57. Pidasheva S., Trifari S., Phillips A. et al. Functional studies on the IBD susceptibility gene IL23R implicate reduced receptor function in the protective genetic variant R381Q. PLoS One. 2011; 6(10):e25038.
  58. Sun L.D., Cheng H., Wang Z.X. et al. Association analyses identify six new psoriasis susceptibility loci in the Chinese population. Nature Genetics. 2010 Nov; 42(11): 1005-1009.
  59. Capon F., Di Meglio P., Szaub J. et al. Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet 2007 Sep; 122(2):201-6.
  60. Duffin K.C., Chandran V., Gladman D.D. et al. Genetics of Psoriasis and Psoriatic Arthritis: Update and Future Direction. J Rheumatol 2008 July; 35(7): 1449-1453.
  61. Bowes J., Eyre S., Flynn E. et al. Evidence to support IL-13 as a risk locus for psoriatic arthritis but not psoriasis vulgaris. Ann Rheum Dis 2011; 70:1016-1019.
  62. 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.
  63. Liu Y., Helms C., Liao W. et al. A Genome-Wide Association Study of Psoriasis and Psoriatic Arthritis Identifies New Disease Loci. Issue of PLoS Genetics March 2008;4: 3.
  64. Zhu S., Qian Y. IL-17/IL-17 receptor system in autoimmune disease: mechanisms and therapeutic potential. Clin Sci (Lond) 2012 Jun; 122(11):487-511.
  65. Chandran V. The Genetics of Psoriasis and Psoriatic Arthritis. Clinical Reviews in Allergy and Immunology. 2012 Jan 25. [Epub ahead of print]
  66. Maeda S., Hayami Y., Naniwa T. The Th17/IL-23 Axis and Natural Immunity in Psoriatic Arthritis. Int J Rheumatol. 2012; 2012:539683.
  67. Bunce M., O'Neill C.M., Barnardo M.C. et al. Phototyping: comprehensive DNA typing for HLA-A, B, C, DRB1, DRB3, DRB5 & DQBl by PCR with 144 primer mixes utilizing sequence-specific primers (PCR-SSP). Tissue Antigens 1995: 46: 355-367.
  68. Huffmeier U., Uebe S., Ekici A.B. et al. Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet 2010 November; 42(11): 996-999.
  69. Donn R.P., Plant D., Jury F. et al. Macrophage Migration Inhibitory Factor Gene Polymorphism is Associated with Psoriasis. J invest dermatol 2004 Sep;123(3):484-7.
  70. Хайрутдинов В.Р. Генетический паспорт больного псориазом. Вестн. дерматол. и венерол. 2011; 4:14-19.
  71. Каганова Н.Л., Фриго Н.В., Кубанов А.А. и др. Генетические аспекты псориаза. Вестн. дерматол. и венерол. 2011; 4: 20-26.
  72. Tejasvi T., Stuart P.E., Chandran V. et al. TN-FAIP3 gene polymorphisms are associated with response to TNF blockade in psoriasis. J Invest Dermatol 2012 Mar; 132(3 Pt 1):593-600.
  73. Vereecke L., Beyaert R., van Loo G. Genetic relationships between A20/TNFAIP3, chronic inflammation and autoimmune disease. Biochem Soc Trans 2011 Aug; 39(4):1086-91.
  74. Capon F., Bijlmakers M.J., Wolf N. et al. Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene. Human Molecular Genetics 2008; 17: 13: 1938-1945.
  75. Zhang X.J., Huang W., Yang S. et al. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet 2009; 41: 205-210.
  76. Jordan C.T., Cao L., Roberson E.D. et al. PSORS2 Is Due to Mutations in CARD14. Am J Hum Genet 2012 May 4; 90(5):784-95.
  77. Till A., Rosenstiel P., Krippner-Heidenreich A. et al. The Met-196 3 Arg Variation of Human Tumor Necrosis Factor Receptor 2 (TNFR2) Affects TNF-a-induced Apoptosis by Impaired NFkB Signaling and Target Gene Expression. The Journal of Biological chemistry 2005; February 18: 280: 7: 5994-6004.
  78. Birnbaum R.Y., Hayashi G., Cohen I. et al. Association analysis identifies ZNF750 regulatory variants in psoriasis. BMC Med Genet 2011 Dec 20; 12:167.
  79. Bohm B., Burkhardt H., Uebe S.et al. Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization. Arthritis Res Ther 2012 Apr 18; 14(2):R84.
  80. Ellinghaus E., Ellinghaus D., Stuart P.E. et al. Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. Nat Genet 2010 Nov; 42(11):991-5.
  81. Ongaro A., De Mattei M., Pellati A. et al. Can tumor necrosis factor receptor II gene 676T>G polymorphism predict the response grading to anti-TNF therapy in rheumatoid arthritis?. Rheumatol Int 2008; 28: 901-908.
  82. Swindell W.R., Xing X., Stuart P.E. et al. Heterogeneity of inflammatory and cytokine networks in chronic plaque psoriasis. PLoS One 2012; 7(3):e34594.
  83. Gregersen P.K., Amos C.I., Lee A.T. et al. REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. Nature Genetics 2009 Jul; 41(7):820-3.
  84. 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(5):1104-17.
  85. Chen G., Zhou D., Zhang Z. et al. Genetic variants in IFIH1 play opposite roles in the pathogenesis of psoriasis and chronic periodontitis. Int J Immunogen 2012 Apr; 39(2):137-143.
  86. Zhang X.J., Huang W., Yang S. et al. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nature Genetics 2009; 41, 205-210.
  87. Chen H., Toh T.K., Szeverenyi I. et al. Association of Skin Barrier Genes within the PSORS4 Locus Is Enriched in Singaporean Chinese with Early-Onset Psoriasis. Journal of Investigative Dermatology 2009) 129, 606-614.
  88. Coto E., Santos-Juanes J., Coto-Segura P. et al. Mutation analysis of the LCE3B/LCE3C genes in Psoriasis. BMC Medical Genetics 2010, 11:45.
  89. Nograles K.E., Brasington R.D., Bowcock A.M. New insights into the pathogenesis and genetics of psoriatic Arthritis. Nat Clin Pract Rheumatol. 2009 February; 5(2): 83-91.
  90. Hewett D., Samuelsson L., Polding J. et al. Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map. Genomics 2002; 79: 305-314.
  91. De Cid R., Riveira-Munoz E,. Zeeuwen P.L. et al. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis population. Nat Genet 2009; 41: 211-215.
  92. Riveira-Munoz E., He S.M., Escaramis G. et al. Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol 2011; 131: 1105-1109.
  93. Wiwanitkit V. LCE3C_LCE3B-del genotype and psoriasis: a summative meta-analysis. Acta Dermatovenerol Croat 2010 Jul; 18(2):130.
  94. Huffmeier U., Bergboer J.G., Becker T. et al. Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. J Invest Dermatol 2010 Apr; 130(4):979-84.
  95. Eder L., Chandran V., Ueng J. et al. Predictors of response to intra-articular steroid injection in psoriatic arthritis. Rheumatology (Oxford). 2010 Jul; 49(7):1367-73.
  96. Gesser B., Rasmussen M.K., Raaby L. et al. Dimethylfumarate inhibits MIF-induced proliferation of keratinocytes by inhibiting MSK1 and RSK1 activation and by inducing nuclear p-c-Jun (S63) and p-p53 (S15) expression. Inflammation Research 2011 Jul; 60(7):643-53.
  97. Alam A., Pal C., Goyal M. et al. Synthesis and bio-evaluation of human macrophage migration inhibitory factor inhibitor to develop antiinflammatory agent. Bioorganic & Medicional Chemistry 2011 Dec 15; 19(24):7365-73.
  98. Ishizaki M., Akimoto T., Muromoto R. et al. Involvement of tyrosine kinase-2 in both the IL-12/ Th1 and IL-23/Th17 axes in vivo. J Immunol 2011 Jul 1; 187(1):181-9.
  99. Li Y., Liao W., Cargill M. et al. Carriers of rare missense variants in IFIH1 are protected from psoriasis. J Invest Dermatol 2010 Dec; 130(12):2768-72.
  100. Oka A., Mabuchi T., Ozawa A. et al. Current understanding of human genetics and genetic analysis of psoriasis. J Dermatol 2012 Mar; 39(3):231-41.
  101. Barker J.N. Psoriasis: pathophysiology, genetics and recent research. JEADV 2000; 14: 95.
  102. Veal C.D., Capon F., Allen M.H. et al. Family-Based Analysis Using a Dense Single-Nucleotide Polymorphism-Based Map Defines Genetic Variation at PSORS1, the Major Psoriasis-Susceptibility Locus. Am J Human Genetics 2002 Sept; 71: 3: 554-564.
  103. Magalhaes R.F., Biral A.C., Pancoto J.A. et al. Human leukocyte antigen (HLA) and single nucleotide polymorphisms (SNPs) tumor necrosis factor (TNF)-alpha -238 and -308 as genetic markers of susceptibility to psoriasis and severity of the disease in a long-term follow-up Brazilian study. Int J Dermatol 2010 Oct; 49(10):1133-40.
  104. Raychaudhuri S.P., Farber E.M. / The prevalence of psoriasis in the world. J Eur Acad Dermatol Venereol. 2001 Jan; 15(1):20-3.
  105. Cargill M., Schrodi S.J., Chang M. et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet 2007; 2007 Feb;80(2):273-90.

Supplementary files

Supplementary Files
Action
1. JATS XML

Copyright (c) 2012 MINEEVA A.A., KOZHUSHNAYA O.S., VOLNUKHIN V.A., FRIGO N.V., ZNAMENSKAYA L.F., KUBANOV A.A., MELEKHINA L.E.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77 - 60448 от 30.12.2014.


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies