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1.
New Phytol ; 225(1): 48-50, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31788821
2.
Arthritis Rheumatol ; 69(8): 1576-1579, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28409899

RESUMO

OBJECTIVE: To examine the prevalence of α1 -antitrypsin deficiency (AATD) in rheumatoid arthritis (RA), and to determine whether AATD is associated with higher levels of rheumatoid factor (RF), antinuclear antibodies (ANAs), and anti-citrullinated peptide autoantibodies (ACPAs). METHODS: RF, ANAs, and ACPAs were measured by standard immunoturbidimetry, immunofluorescence assay, and enzyme-linked immunosorbent assay, respectively. Characterization of AAT phenotypes was performed by isoelectric focusing and immunofixation. The chi-square test with Yates' correction and the Mann-Whitney U test were used to assess the prevalence of alleles associated with AATD in RA and to compare mean antibody titers, respectively. RESULTS: Of 246 patients with RA, 24 who were heterozygous for AATD were identified, with no statistically significant difference in the prevalence of AATD between RA patients and the general population (P = 0.39). A positive association between heterozygosity for AATD and the production of ACPAs was observed (P < 0.0001), with increased ACPA titers recorded in the AATD RA cohort compared with the general population (P = 0.01). CONCLUSION: AAT heterozygous status in RA is strongly associated with positive ACPAs and may define a distinct subset of patients with increased disease severity.


Assuntos
Anticorpos Antinucleares/imunologia , Artrite Reumatoide/imunologia , Peptídeos Cíclicos/imunologia , Fator Reumatoide/imunologia , Deficiência de alfa 1-Antitripsina/genética , alfa 1-Antitripsina/genética , Artrite Reumatoide/epidemiologia , Artrite Reumatoide/genética , Autoanticorpos/imunologia , Estudos de Casos e Controles , Genótipo , Humanos , Mutação , Fenótipo , Polimorfismo Genético , Prevalência , Deficiência de alfa 1-Antitripsina/epidemiologia
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