Article
Risk of relapse of ANCA-associated vasculitis among patients homozygous for the proteinase 3 gene Val119Ile polymorphism.
RMD open - 1 Mar 2023
Casal Moura Marta, Deng Zuoming, Brooks Stephen R, Tew Wei, Fervenza Fernando C, Kallenberg Cees G M, Langford Carol A, Merkel Peter A, Monach Paul A, Seo Philip, Spiera Robert F, St Clair E William, Stone John H, Prunotto Marco, Grayson Peter C, Specks Ulrich
Abstract excerpt
BACKGROUND: The frequency of proteinase 3 gene (PRTN3) polymorphisms in patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is not fully characterised. We hypothesise that the presence of a PRTN3 gene polymorphism (single nucleotide polymorphism (SNP) rs351111) is relevant for clinical outcomes. METHODS: DNA variant calling for SNP rs351111 (chr.19:844020, c.355G>A) in PRTN3 gene...
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