Vestnik dermatologii i venerologiiVestnik dermatologii i venerologiiВестник дерматологии и венерологии0042-46092313-6294Rossijskoe Obschestvo Dermatovenerologov i Kosmetologov102710.25208/vdv1027ArticlesСтатьиGenetic profile of psoriasis patientsГенетический паспорт больного псориазомKhayrutdinovV RХайрутдиновВ Р

начальник кожно-венерологического отделения кафедры кожныхи венерических болезнейк.м.н; Военно-медицинская академия им. С.М. Кирова

haric03@list.ruKhairutdinovV RВоенно-медицинская академия им. С.М. Кирова15082011874NO4 (2011)№4 (2011)141911032020Copyright ©; 2011, Khayrutdinov V.R., Khairutdinov V.R.Copyright ©; 2011, Хайрутдинов В.Р., Khairutdinov V.R.2011Khayrutdinov V.R., Khairutdinov V.R.Хайрутдинов В.Р., Khairutdinov V.R.https://creativecommons.org/licenses/by/4.0https://vestnikdv.ru/jour/article/view/1027

The article systematizes information about genetic polymorphisms associated with the risk of psoriasis and psoriatic arthritis development. Gene variants that are potentially essential for their inclusion in genetic tests were sampled taking into consideration polymorphism localization. The presented data are sufficient to prepare the genetic profile of psoriatic patients, forecast the clinical course of the disease and potential efficacy of treatment, and calculate the risk of the disease development in the patients relatives.

В статье систематизированы сведения о генных полиморфизмах, ассоциированных с риском развития псориаза и псориатического артрита. Проведен отбор вариантов генов, потенциально значимых для включения их в генетические тесты, с учетом локализации полиморфизмов. Представленные данные позволяют составить «генетический паспорт» больного псориазом, прогнозировать клиническое течение болезни, возможную эффективность терапии, рассчитать риск развития заболевания у родственников пациента.

psoriasisgenetic polymorphismassociation with predispositiongenetic profileпсориазгенный полиморфизмассоциация с предрасположенностьюгенетический паспортХуснутдинова Э.К., Боринская С.А. Геномная медицина - медицина XXI века. Природа 2002; 12: 3-8.Баранов В.С., Баранова Е.В. Генетический паспорт - основа активного долголетия и максимальной продолжительности жизни. Успехи геронтологии 2009; 1: 84-91.Имянитов Е.Н., Хансон К.П. Молекулярная генетика в клинической онкологии. Сибирский онкологический журнал 2004; 2-3: 40-47.Галицкий В.А. Гипотеза о механизме инициации малыми РНК метилирования ДНК de novo и аллельного исключения. Цитология 2008; 50 (4): 277-286.Grant S.F., Hakonarson H. Microarray technology and applications in the arena of genomewide association. Clinical Chemistry 2008; 54 (7): 1116-1124.Chatterjee S., Pal J.K. Role of 5'- and 3'-untranslated regions of mRNAs in human diseases. Biology of the Cell 2009; 101 (5): 251-262.Mallon E., Newson R., Bunker C.B. HLA-Cw6 and the genetic predisposition to psoriasis: a meta-analysis of published serologic studies. J Invest Dermatol 1999; 113 (4): 693-695.Nair R.P., Stuart P.E., Nistor I. et al. Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. Am J Hum Genet 2006; 78 (5): 827-851.Huffmeier U., Uebe S., Ekici A.B. et al. Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nature Genetics 2010; 42: 996-999.Каганова Н.Л., Фриго Н.В., Кубанов А.А. и др. Генетические аспекты псориаза. Вестн. дерматол. 2009; 4: 20-26.Gudjonsson J.E., Johnston A., Sigmundsdottir H. et al. Immunopathogenic mechanisms in psoriasis. Clin Exp Immunol 2004; 135 (1): 1-8.Krueger G., Callis K. Potential of tumor necrosis factor inhibitors in psoriasis and psoriatic arthritis. Arch Dermatol 2004; 140 (2): 218-225.Nickoloff B.J., Nestle F.O. Recent insights into the immunopathogenesis of psoriasis provide new therapeutic opportunities. J Clin Invest 2004; 113: 1664-1675.Li C., Wang G., Gao Y. et al. TNF-alpha gene promoter -238G>A and -308G>A polymorphisms alter risk of psoriasis vulgaris: a metaanalysis. J Invest Dermatol 2007; 127 (8): 1886-1892.Reich K., Hüffmeier U., König I.R. et al. TNF polymorphisms in psoriasis: association of psoriatic arthritis with the promoter polymorphism TNF -857 independent of the PSORS1 risk allele. Arthritis and Rheumatism 2007; 56 (6): 2056-2064.Кубанова А.А., Кубанов А.А., Николас Д.Ф. и др. Иммунные механизмы псориаза. Новые стратегии биологической терапии. Вестн. дерматол. 2010; 1: 35-48.Лесная И.Н., Фриго Н.В., Каганова Н.Л. и др. Молекулярные маркеры в прогнозировании клинической эффективности инфликсима- ба у больных псориазом. Вестн. дерматол. 2010; 1: 57-67.Qian Y., Liu C., Hartupee J. et al. The adaptor Act1 is required for interleukin 17-dependent signaling associated with autoimmune and inflammatory disease. Nature Immunology 2007; 8: 247-256.Lowes M.A., Kikuchi T., Fuentes-Duculan J. et al. Psoriasis vulgaris lesions contain discrete populations of Th1 and Th17 T cells. J Invest Dermatol 2008; 128 (5): 1207-1211.Ellinghaus E., Ellinghaus D., Stuart P.E. et al. Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. Nature Genetics 2010; 42 (11): 991-995.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 Huma Genet 2007; 80 (2): 273-290.Filer C., Ho P., Smith R.L. et al. Investigation of association of the IL12B and IL23R genes with psoriatic arthritis. Arthritis and Rheum 2008; 58 (12): 3705-3709.Nair R.P., Ruether A., Stuart P.E. et al. Polymorphisms of the IL12B and IL23R genes are associated with psoriasis. J Invest Dermatol 2008; 128 (7): 1653-1661.Nestle F.O., Kaplan D.H., Barker J. Review article: mechanisms of disease. Psoriasis. N Engl J Med 2009; 361: 496-509.Nair R.P., Stuart P.E., Kullavanijaya P. et al. Genetic evidence for involvement of the IL23 pathway in Thai psoriatics. Arch Dermatol Res 2010; 302 (2): 139-143.Elder J.T. Genome-wide association scan yields new insights into the immunopathogenesis of psoriasis. Genes Immun 2009; 10 (3): 201-209.Nair R.P., Duffin K.C., Helms C. et al. Genomewide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet 2009; 41 (2): 199-204.Robinson P., Okhuysen P.C., Chappell C.L. et al. Expression of IL-15 and IL-4 in IFN-gammaindependent control of experimental human Cryptosporidium parvum infection. Cytokine 2001; 15 (1): 39-46.Zhang X.J., Yan K.L., Wang Z.M. et al. Polymorphisms in interleukin-15 gene on chromosome 4q31.2 are associated with psoriasis vulgaris in Chinese population. J Invest Dermatol 2007; 127 (11): 2544-2551.Van Lint P., Libert C. Chemokine and cytokine processing by matrix metalloproteinases and its effect on leukocyte migration and inflammation. J Leukoc Biol 2007; 82 (6): 1375-1381.Siroux V., Bouzigon E., Dizier M.H. et al. Replication of association between ADAM33 polymorphisms and psoriasis. PLoS One 2008; 3 (6): 2448.Deng W., Liang W.B., Gao L.B. et al. Association of ADAM33 polymorphisms and susceptibility to psoriasis. DNA Cell Biol 2010; 29 (8): 435-439.Guzman S.C, Conlan S., Deming C.B. et al. A milieu of regulatory elements in the epidermal differentiation complex syntenic block: implications for atopic dermatitis and psoriasis. Hum Mol Genet 2010; 19 (8): 1453-1460.Chang Y.C., Wu W.M., Chen C.H. et al. Association between P478S polymorphism of the filaggrin gene and risk of psoriasis in a Chinese population in Taiwan. Arch Dermatol Res 2008; 300 (3): 133-137.Ruceviс I., Barisiс-Drusko V., Glavas-Obrovac L. et al. Vitamin D endocrine system and psoriasis vulgaris - review of the literature. Acta Dermatovenerol Croat 2009; 17 (3): 187-192.Halsall J.A., Osborne J.E., Pringle J.H. et al. Vitamin D receptor gene polymorphisms, particularly the novel A-1012G promoter polymorphism, are associated with vitamin D3 responsiveness and non-familial susceptibility in psoriasis. Pharmacogenet Genomics 2005; 15 (5): 349-355.Canavese M., Altruda F., Ruzicka T. et al. Vascular endothelial growth factor (VEGF) in the pathogenesis of psoriasis - a possible target for novel therapies? J Dermatol Sci 2010; 58 (3): 171-176.Schonthaler H.B., Huggenberger R., Wculek S.K. et al. Systemic anti-VEGF treatment strongly reduces skin inflammation in a mouse model of psoriasis. Proc Natl Acad Sci USA 2009; 106 (50): 21264-21269.Young H.S., Summers A.M., Bhushan M. et al. Single-Nucleotide Polymorphisms of vascular endothelial growth factor in psoriasis of early onset. J Invest Dermatol 2004; 122: 209-215.Butt C., Lim S., Greenwood C. et al. VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis. BMC Musculoskelet Disord 2007; 8: 1.Put N.M., Gabreels F., Stevens E.M. et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet 1998; 62 (5): 1044-1051.Ede A.E., Laan R.F., Blom H.J. et al. The C677T mutation in the methylenetetrahydrofolate reductase gene: a genetic risk factor for methotrexate-related elevation of liver enzymes in rheumatoid arthritis patients. Arthritis Rheum 2001; 44 (11): 2525-2530.Hughes L.B., Beasley T.M., Patel H. et al. Racial or ethnic differences in allele frequencies of single-nucleotide polymorphisms in the ethylenetetrahydrofolate reductase gene and their influence on response to methotrexate in rheumatoid arthritis. Ann Rheum Dis 2006; 65 (9): 1213-1218.Warren R.B., Smith R.L., Campalani E. et al. Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms. Br J Dermatol 2009; 160 (2): 438-441.Vasku V., Bienertova-Vasku J., Necas M. et al. MTHFR (methylenetetrahydrofolate reductase) C677T polymorphism and psoriasis. Clin Exp Med 2009; 9 (4): 327-331.Kastelan M., Prpiс-Massari L., Brajac I. Apoptosis in psoriasis. Acta Dermatovenerol Croatica 2009; 17 (3): 182-186.Zaba L.C., Fuentes-Duculan J., Eungdamrong N.J. et al. Identification of TNF-related apoptosis-inducing ligand and other molecules that distinguish inflammatory from resident dendritic cells in patients with psoriasis. J Allergy Clin Immunol 2010; 125 (6): 1261-1268.Хайрутдинов В.Р., Жуков А.С., Пономарев И.А. и др. Роль полиморфных генов программируемой клеточной гибели в формировании риска развития псориаза. Вестн. дерматол. 2009; 4: 4-9.Donn R.P., Plant D., Jury F. et al. Macrophage migration inhibitory factor gene polymorphism is associated with psoriasis. J Invest Dermatol 2004; 123 (3): 484-487.Zhou Z., Hamming O.J., Ank N. et al. Type III interferon (IFN) induces a type I IFN-like response in a restricted subset of cells through signaling pathways involving both the Jak-STAT pathway and the mitogen-activated protein kinases. J Virol 2007; 81 (14): 7749-7758.Strange A., Capon F., Spencer C.C. et al. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet 2010; 42 (11): 985-990.