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• W2110204089 endingPage "812" @default.
• W2110204089 startingPage "805" @default.
• W2110204089 abstract "PTPN22 is involved in T-cell activation and its R620W single-nucleotide polymorphism (SNP) has been shown to predispose to different autoimmune diseases. The aims of this study were to investigate the role of the PTPN22 R620W SNP in conferring susceptibility to the ANCA-associated vasculitides (AAVs), and to explore potential associations between the PTPN22 genotype and the disease manifestations.PTPN22 R620W SNP was genotyped in a cohort of 344 AAV patients [143 with granulomatosis with polyangiitis (Wegener's) (GPA), 102 with microscopic polyangiitis (MPA) and 99 with Churg-Strauss syndrome (CSS)] and in 945 healthy controls.The frequency of the minor allele (620W) was significantly higher in GPA patients than in controls [P = 0.005, χ(2 )= 7.858, odds ratio (OR) = 1.91], while no statistically significant association was found with MPA or CSS. Among GPA patients, the 620W allele was particularly enriched in ANCA-positive patients as compared with controls (P = 0.00012, χ(2 )= 14.73, OR = 2.31); a particularly marked association was also found with ENT involvement (P = 0.0071, χ(2 )= 7.258, OR = 1.98), lung involvement (P = 0.0060, χ(2 )= 7.541, OR = 2.07) and skin manifestations of all kinds (P = 0.000047, χ(2 )= 16.567, OR = 3.73).The PTPN22 620W allele confers susceptibility to the development of GPA (but not of MPA or CSS), and particularly of its ANCA-positive subset." @default.
• W2110204089 created "2016-06-24" @default.
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• W2110204089 date "2012-01-11" @default.
• W2110204089 modified "2023-09-27" @default.
• W2110204089 title "PTPN22 R620W polymorphism in the ANCA-associated vasculitides" @default.
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• W2110204089 doi "https://doi.org/10.1093/rheumatology/ker446" @default.
• W2110204089 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22237046" @default.
• W2110204089 hasPublicationYear "2012" @default.
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