Article
Polymorphisms of the SERPINA1 gene are associated with higher mortality in a Brazilian cohort of ANCA-associated vasculitis patients.
Clinics (Sao Paulo, Brazil) - 1 Jan 2024
Giardini Henrique Ayres Mayrink, Caparbo Valeria de Falco, de Castro Isac, Toledo Andréia Padilha, Barbas Carmen Silvia Valente, Shinjo Samuel Katsuyuki, Pereira Rosa Maria Rodrigues
Abstract excerpt
BACKGROUND: Alpha-1-Antitrypsin (A1AT) is a protease inhibitor encoded by the SERPINA1 gene. A1AT serves as the primary natural inhibitor of Proteinase 3 (PR3), an enzyme found in neutrophils. PR3 is an antigenic target of Anti-Neutrophil Cytoplasmic Antibodies (ANCA). While numerous studies have established a connection between Single Nucleotide Polymorphisms (SNPs) in the SERPINA1 gene and ANCA-Associated...
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