Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population

Molecular Biology Reports

Volumn 39, Issue 9, 2012, Pages 8861-8866

  Piotrowski, Piotr ^a   Lianeri, Margarita ^a   Wudarski, Mariusz ^b   Olesińska, Marzena ^b   Jagodziński, Paweł P ^a  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b INSTITUTE OF RHEUMATOLOGY   (Poland)

Author keywords

Polymorphism; SLE; STAT4

Indexed keywords

PROTEIN ANTIBODY; SCL 70 ANTIBODY; SMALL NUCLEAR RIBONUCLEOPROTEIN; STAT4 PROTEIN;

ADULT; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE PREDISPOSITION; ETHNIC GROUP; FEMALE; GENE; GENE FREQUENCY; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; INCIDENCE; KIDNEY DISEASE; MAJOR CLINICAL STUDY; NEUROLOGIC DISEASE; POLISH; PREVALENCE; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; STAT4 GENE; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADULT; ALLELES; AUTOANTIBODIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; POLAND; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; STAT4 TRANSCRIPTION FACTOR;

EID: 84865135484     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-012-1752-3     Document Type: Article

References (39)

1. Sekigawa I, Naito T, Hira K, Mitsuishi K, Ogasawara H, Hashimoto H, Ogawa H (2004) Possible mechanisms of gender bias in SLE: a new hypothesis involving a comparison of SLE with atopy. Lupus 13:217-222 (Pubitemid 38649619)
2. Warchoł T, Lianeri M, Łacki JK, Jagodziński PP (2010) SDF1-3' G801A polymorphisms in Polish patients with systemic lupus erythematosus. Mol Biol Rep 37:3121-3125
3. Harley IT, Kaufman KM, Langefeld CD, Harley JB, Kelly JA (2009) Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies. Nat Rev Genet 10:285-290
4. International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), Harley JB, Alarcón-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL, Tsao BP, Vyse TJ, Langefeld CD, Nath SK, Guthridge JM, Cobb BL, Mirel DB, Marion MC, Williams AH, Divers J, Wang W, Frank SG, Namjou B, Gabriel SB, Lee AT, Gregersen PK, Behrens TW, Taylor KE, Fernando M, Zidovetzki R, Gaffney PM, Edberg JC, Rioux JD, Ojwang JO, James JA, Merrill JT, Gilkeson GS, Seldin MF, Yin H, Baechler EC, Li QZ, Wakeland EK, Bruner GR, Kaufman KM, Kelly JA (2008) Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 40:204-210 (Pubitemid 351171405)
5. Han JW, Zheng HF, Cui Y, Sun LD, Ye DQ, Hu Z, Xu JH, Cai ZM, Huang W, Zhao GP, Xie HF, Fang H, Lu QJ, Xu JH, Li XP, Pan YF, Deng DQ, Zeng FQ, Ye ZZ, Zhang XY, Wang QW, Hao F, Ma L, Zuo XB, Zhou FS, Du WH, Cheng YL, Yang JQ, Shen SK, Li J, Sheng YJ, Zuo XX, Zhu WF, Gao F, Zhang PL, Guo Q, Li B, Gao M, Xiao FL, Quan C, Zhang C, Zhang Z, Zhu KJ, Li Y, Hu DY, Lu WS, Huang JL, Liu SX, Li H, Ren YQ, Wang ZX, Yang CJ, Wang PG, Zhou WM, Lv YM, Zhang AP, Zhang SQ, Lin D, Li Y, Low HQ, Shen M, Zhai ZF, Wang Y, Zhang FY, Yang S, Liu JJ, Zhang XJ (2009) Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat Genet 41:1234-1237
6. Jönsen A, Bengtsson AA, Nived O, Truedsson L, Sturfelt G (2007) Gene-environment interactions in the aetiology of systemic lupus erythematosus. Autoimmunity 40:613-617
7. Crispín JC, Tsokos GC (2008) Novel molecular targets in the treatment of systemic lupus erythematosus. Autoimmun Rev 7:256-261
8. Stohl W, Metyas S, Tan SM, Cheema GS, Xu D, Oamar B, Roschke V, Wu Y, Baker KP, Hilbert DM (2003) B lymphocyte stimulator overexpression in patients with systemic lupus erythematosus: longitudinal observations. Arthritis Rheum 48:3475-3486 (Pubitemid 37531913)
9. Al-Janadi M, Al-Balla S, Al-Dalaan A, Raziuddin S (1993) Cytokine profile in systemic lupus erythematosus, rheumatoid arthritis, and other rheumatic diseases. J Clin Immunol 13:58-67 (Pubitemid 23047997)
10. Kaplan MH (2005) STAT4: a critical regulator of inflammation in vivo. Immunol Res 31:231-242 (Pubitemid 40628960)
11. Taylor KE, Remmers EF, Lee AT, Ortmann WA, Plenge RM, Tian C, Chung SA, Nititham J, Hom G, Kao AH, Demirci FY, Kamboh MI, Petri M, Manzi S, Kastner DL, Seldin MF, Gregersen PK, Behrens TW, Criswell LA (2008) Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus. PLoS Genet 4:e1000084 (Pubitemid 351811493)
12. Sigurdsson S, Nordmark G, Garnier S, Grundberg E, Kwan T, Nilsson O, Eloranta ML, Gunnarsson I, Svenungsson E, Sturfelt G, Bengtsson AA, Jönsen A, Truedsson L, Rantapää-Dahlqvist S, Eriksson C, Alm G, Göring HH, Pastinen T, Syvänen AC, Rönnblom L (2008) A risk haplotype of STAT4 for systemic lupus erythematosus is overexpressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5. Hum Mol Genet 17:2868-2876
13. Hellquist A, Sandling JK, Zucchelli M, Koskenmies S, Julkunen H, D'Amato M, Garnier S, Syvänen AC, Kere J (2009) Variation in STAT4 is associated with systemic lupus erythematosus in a finnish family cohort. Ann Rheum Dis 69:883-886
14. Yang W, Ng P, Zhao M, Hirankarn N, Lau CS, Mok CC, Chan TM, Wong RW, Lee KW, Mok MY, Wong SN, Avihingsanon Y, Lee TL, Ho MH, Lee PP, Wong WH, Lau YL (2009) Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese. Genes Immun 10:219-226
15. Li P, Cao C, Luan H, Li C, Hu C, Zhang S, Zeng X, Zhang F, Zeng C, Li Y (2011) Association of genetic variations in the STAT4 and IRF7/KIAA1542 regions with systemic lupus erythematosus in a Northern Han Chinese population. Hum Immunol 72:249-255
16. Su Y, Zhao Y, Liu X, Guo JP, Jiang Q, Liu XY, Zhang FC, Zheng Y, Li XX, Song H, Huang CB, Huang YH, Wang T, Pan SS, Li C, Liu X, Zhu L, Zhang CF, Li ZG (2010) Variation in STAT4 is associated with systemic lupus erythematosus in Chinese Northern Han population. Chin Med J (Engl) 123:3173-3177
17. Kiyohara C, Washio M, Horiuchi T, Tada Y, Asami T, Ide S, Atsumi T, Kobashi G, Takahashi H, Kyushu Sapporo SLE (KYSS) Study Group (2009) Cigarette smoking, STAT4 and TNFRSF1B polymorphisms, and systemic lupus erythematosus in a Japanese population. J Rheumatol 36:2195-2203
18. Kawasaki A, Ito I, Hikami K, Ohashi J, Hayashi T, Goto D, Matsumoto I, Ito S, Tsutsumi A, Koga M, Arinami T, Graham RR, Hom G, Takasaki Y, Hashimoto H, Behrens TW, Sumida T, Tsuchiya N (2008) Role of STAT4 polymorphisms in systemic lupus erythematosus in a Japanese population: a case-control association study of the STAT1-STAT4 region. Arthritis Res Ther 10:R113
19. Kobayashi S, Ikari K, Kaneko H, Kochi Y, Yamamoto K, Shimane K, Nakamura Y, Toyama Y, Mochizuki T, Tsukahara S, Kawaguchi Y, Terai C, Hara M, Tomatsu T, Yamanaka H, Horiuchi T, Tao K, Yasutomo K, Hamada D, Yasui N, Inoue H, Itakura M, Okamoto H, Kamatani N, Momohara S (2008) Association of STAT4 with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in the Japanese population. Arthritis Rheum 58:1940-1946 (Pubitemid 351988085)
20. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, Schaller JG, Talal N, Winchester RJ (1982) The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 25:1271-1277 (Pubitemid 13221242)
21. Hochberg MC (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40:1725
22. Yamamoto K, Kobayashi H, Arai A, Miura O, Hirosawa S, Miyasaka N (1997) cDNA cloning, expression and chromosome mapping of the human STAT4 gene: both STAT4 and STAT1 genes are mapped to 2q32.2->q32.3. Cytogenet Cell Genet 77:207-210 (Pubitemid 27370930)
23. Kisseleva T, Bhattacharya S, Braunstein J, Schindler CW (2002) Signaling through the JAK/STAT pathway, recent advances and future challenges. Gene 285:1-24 (Pubitemid 34246317)
24. Levy DE, Darnell JE Jr (2002) Nat Rev Mol Cell Biol 3:651-662 (Pubitemid 34987786)
25. O'Shea JJ, Gadina M, Schreiber RD (2002) Cell 109(suppl.):S121-S131 (Pubitemid 34457857)
26. Hunter CA (2005) New IL-12-family members: IL-23 and IL-27, cytokines with divergent functions. Nat Rev Immunol 5:521-531 (Pubitemid 40961330)
27. Bengtsson AA, Sturfelt G, Truedsson L, Blomberg J, Alm G, Vallin H, Rönnblom L (2000) Activation of type I interferon system in systemic lupus erythematosus correlates with disease activity but not with antiretroviral antibodies. Lupus 9:664-671 (Pubitemid 32011791)
28. Luan H, Li P, Cao C, Li C, Hu C, Zhang S, Zeng X, Zhang F, Zeng C, Li Y (2011) A single-nucleotide polymorphism of the STAT4 gene is associated with systemic lupus erythematosus (SLE) in female Chinese population. Rheumatol Int. doi: 10.1007/s00296-010-1767-9
29. Suarez-Gestal M, Calaza M, Endreffy E, Pullmann R, Ordi-Ros J, Sebastiani GD, Ruzickova S, Jose Santos M, Papasteriades C, Marchini M, Skopouli FN, Suarez A, Blanco FJ, D'Alfonso S, Bijl M, Carreira P, Witte T, Migliaresi S, Gomez-Reino JJ, Gonzalez A, European Consortium of SLE DNA Collections (2009) Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study. Arthritis Res Ther 11:R69
30. Abelson AK, Delgado-Vega AM, Kozyrev SV, Sánchez E, Velázquez-Cruz R, Eriksson N, Wojcik J, Linga Reddy MV, Lima G, D'Alfonso S, Migliaresi S, Baca V, Orozco L, Witte T, Ortego-Centeno N, AADEA Group, Abderrahim H, Pons-Estel BA, Gutiérrez C, Suárez A, González-Escribano MF, Martin J, Alarcón-Riquelme ME (2009) STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk. Ann Rheum Dis 68:1746-1753
31. Palomino-Morales RJ, Rojas-Villarraga A, González CI, Ramírez G, Anaya JM, Martín J (2008) STAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians. Genes Immun 9:379-382 (Pubitemid 351791494)
32. Zervou MI, Vazgiourakis VM, Yilmaz N, Kontaki E, Trouw LA, Toes RE, Bicakcigil M, Boumpas DT, Yavuz S, Goulielmos GN (2011) TRAF1/C5, eNOS, C1q, but not STAT4 and PTPN22 gene polymorphisms are associated with genetic susceptibility to systemic lupus erythematosus in Turkey. Hum Immunol 72:1210-1213
33. Chung SA, Taylor KE, Graham RR, Nititham J, Lee AT, Ortmann WA, Jacob CO, Alarcón-Riquelme ME, Tsao BP, Harley JB, Gaffney PM, Moser KL, SLEGEN, Petri M, Demirci FY, Kamboh MI, Manzi S, Gregersen PK, Langefeld CD, Behrens TW, Criswell LA (2011) Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. PLoS Genet 7:e1001323
34. Yin H, Borghi MO, Delgado-Vega AM, Tincani A, Meroni PL, Alarcón-Riquelme ME (2009) Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome. Arthritis Rheum 60:2468-2471
35. Lee YH, Woo JH, Choi SJ, Ji JD, Song GG (2009) Association between the rs7574865 polymorphism of STAT4 and rheumatoid arthritis: a meta-analysis. Rheumatol Int 30:661-666
36. Glas J, Seiderer J, Nagy M, Fries C, Beigel F, Weidinger M, Pfennig S, Klein W, Epplen JT, Lohse P, Folwaczny M, Göke B, Ochsenkühn T, Diegelmann J, Müller-Myhsok B, Roeske D, Brand S (2010) Evidence for STAT4 as a common autoimmune gene: Rs7574865 is associated with colonic Crohn's disease and early disease onset. PLoS One 5:e10373
37. Pykäläinen M, Kinos R, Valkonen S, Rydman P, Kilpeläinen M, Laitinen LA, Karjalainen J, Nieminen M, Hurme M, Kere J, Laitinen T, Lahesmaa R (2005) Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes. J Allergy Clin Immunol 115:80-87 (Pubitemid 40075425)
38. Rueda B, Broen J, Simeon C, Hesselstrand R, Diaz B, Suárez H, Ortego-Centeno N, Riemekasten G, Fonollosa V, Vonk MC, van den Hoogen FH, Sanchez-Román J, Aguirre-Zamorano MA, García-Portales R, Pros A, Camps MT, Gonzalez-Gay MA, Coenen MJ, Airo P, Beretta L, Scorza R, van Laar J, Gonzalez-Escribano MF, Nelson JL, Radstake TR, Martin J (2009) The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype. Hum Mol Genet 18:2071-2207
39. Korman BD, Alba MI, Le JM, Alevizos I, Smith JA, Nikolov NP, Kastner DL, Remmers EF, Illei GG (2008) Variant form of STAT4 is associated with primary Sjogren's syndrome. Genes Immun 9:267-270 (Pubitemid 351584194)