Association of functional variants of PTPN22 and tp53in psoriatic arthritis: a case-control study
Tóm tắt
Recent studies have implicated PTPN22 and tp53 in susceptibility to several autoimmune diseases, including rheumatoid arthritis, suggesting that these genes are important in maintaining immune homeostasis. Because autoimmune diseases may share similar susceptibility loci, investigation of these genes in psoriatic arthritis (PsA) is of potential relevance. As a result we investigated known coding polymorphisms in PTPN22 and tp53 in a homogenous Caucasian PsA cohort from Newfoundland, Canada and an admixed Caucasian PsA cohort from Toronto, Canada. We observed a moderate association of the R620W variant of PTPN22 with PsA in the Toronto population only. Because of the conflicting findings reported regarding the association of PTPN22 with PsA, further studies in other PsA populations are warranted.
Tài liệu tham khảo
Hasegawa K, Martin F, Huang G, Tumas D, Diehl L, Chan AC: PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/memory T cells. Science. 2004, 303: 685-689. 10.1126/science.1092138.
Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, et al: A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet. 2004, 36: 337-338. 10.1038/ng1323.
Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, et al: A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet. 2004, 75: 330-337. 10.1086/422827.
Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, et al: Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet. 2004, 75: 504-507. 10.1086/423790.
Nistor I, Nair RP, Stuart P, Hiremagalore R, Thompson RA, Jenisch S, Weichenthal M, Abecasis GR, Qin ZS, Christophers E, et al: Protein tyrosine phosphatase gene PTPN22 polymorphism in psoriasis: lack of evidence for association. J Invest Dermatol. 2005, 125: 395-396.
Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, Moser KL, Begovich AB, Carlton VE, Li W, et al: Analysis of families in the Multiple Autoimmune Disease Genetics Consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet. 2005, 76: 561-571. 10.1086/429096.
Olsen NJ, Moore JH, Aune TM: Gene expression signatures for autoimmune disease in peripheral blood mononuclear cells. Arthritis Res Ther. 2004, 6: 120-128. 10.1186/ar1190.
Maas K, Westfall M, Pietenpol J, Olsen NJ, Aune T: Reduced p53 in peripheral blood mononuclear cells from patients with rheumatoid arthritis is associated with loss of radiation-induced apoptosis. Arthritis Rheum. 2005, 52: 1047-1057. 10.1002/art.20931.
Taubert H, Thamm B, Meye A, Bartel F, Rost AK, Heidenreich D, John V, Brandt J, Bache M, Wurl P, et al: The p53 status in juvenile chronic arthritis and rheumatoid arthritis. Clin Exp Immunol. 2000, 122: 264-269. 10.1046/j.1365-2249.2000.01358.x.
Lee YH, Kim YR, Ji JD, Sohn J, Song GG: p53 codon 72 polymorphism and rheumatoid arthritis. J Rheumatol. 2001, 28: 2392-2394.
Rahman P, Elder JT: Genetic epidemiology of psoriasis and psoriatic arthritis. Ann Rheum Dis. 2005, ii37-ii39. 10.1136/ard.2004.030775.
Firestein GS, Nguyen K, Aupperle KR, Yeo M, Boyle D, Zvaifler NJ: Apoptosis in rheumatoid arthritis: p53 overexpression in rheumatoid arthritis synovium. Am J Pathol. 1996, 149: 2143-2151.
Hannuksela-Svahn A, Paakko P, Autio P, Reunala T, Karvonen J, Vahakangas K: Expression of p53 protein before and after PUVA treatment in psoriasis. Acta Derm Venereol. 1999, 79: 195-199. 10.1080/000155599750010959.
Salvador G, Sanmarti R, Garcia-Peiro A, Rodriguez-Cros JR, Munoz-Gomez J, Canete JD: p53 expression in rheumatoid and psoriatic arthritis synovial tissue and association with joint damage. Ann Rheum Dis. 2005, 64: 183-187. 10.1136/ard.2004.024430.