Brief Report: Genetic Variation of the α 1 -Antitrypsin Gene Is Associated With Increased Autoantibody Production in Rheumatoid Arthritis

To examine the prevalence of α -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). RF, ANAs, and ACPAs were measure...

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Published in:Arthritis & rheumatology (Hoboken, N.J.) N.J.), 2017-08, Vol.69 (8), p.1576-1579
Main Authors: McCarthy, Cormac, Orr, Carl, Fee, Laura T, Carroll, Tomás P, Dunlea, Danielle M, Hunt, David J L, Dunne, Eimear, O'Connell, Paul, McCarthy, Geraldine, Kenny, Dermot, Fearon, Ursula, Veale, Douglas J, Reeves, Emer P, McElvaney, Noel G
Format: Article
Language:English
Subjects:
alpha 1-Antitrypsin - genetics
alpha 1-Antitrypsin Deficiency - epidemiology
alpha 1-Antitrypsin Deficiency - genetics
Antibodies, Antinuclear - immunology
Arthritis, Rheumatoid - epidemiology
Arthritis, Rheumatoid - genetics
Arthritis, Rheumatoid - immunology
Autoantibodies - immunology
Case-Control Studies
Genotype
Humans
Mutation
Peptides, Cyclic - immunology
Phenotype
Polymorphism, Genetic
Prevalence
Rheumatoid Factor - immunology
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Summary:To examine the prevalence of α -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). 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. 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 
ISSN:2326-5191
2326-5205
DOI:10.1002/art.40127