PMID: 6988116Feb 1, 1980Paper

Association of severe rheumatoid arthritis with heterozygosity for alpha 1-antitrypsin deficiency

Clinical Genetics
D W Cox, O Huber

Abstract

Genetic types of alpha 1-antitrypsin (protease inhibitor types, or Pi types) were determined in 108 patients with rheumatoid arthritis. These patients were selected for severely destructive disease and had classical rheumatoid arthritis according to ARA criteria, were seropositive, and had joint erosions shown by X-ray. Heterozygotes for the deficiency Z allele (Pi types MZ, SZ, etc.) were found among 9.2% of patients and 3.5% of a control adult population. The increased frequency in patients was statistically significant. Heterozygotes were most frequent among female patients with an early onset of disease. Heterozygosity for alpha 1-antitrypsin deficiency may be a factor in familial recurrence of rheumatoid arthritis. Among 98 patients with juvenile rheumatoid arthritis not selected for severity, 4.1% were Z heterozygotes compared with 1.3% of control children, not a statistically significant difference. Reduced concentrations of alpha 1-antitrypsin in Z heterozygotes may be inadequate to inhibit the proteolytic enzymes released into the joints of adults with rheumatoid arthritis during phagocytosis of immune complexes. This may be a factor promoting severe joint destruction.

References

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Citations

Jan 1, 1989·Critical Reviews in Clinical Laboratory Sciences·R D Feld
Sep 1, 1983·American Journal of Physical Anthropology·B K Suarez, J A Pierce
Jan 1, 1988·Scandinavian Journal of Rheumatology. Supplement·S Shiozawa, K Shiozawa
Jun 1, 1984·Clinical Genetics·G BeckmanS R Dahlqvist
Aug 1, 1983·Journal of Immunogenetics·M R Laurent, K I Welsh
Aug 1, 1987·Arthritis and Rheumatism·J HietalaO Koivisto
Oct 2, 1998·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·I W GraziadeiM K Porayko
Feb 22, 2012·Archivum Immunologiae Et Therapiae Experimentalis·David A BerginEmer P Reeves
Jan 1, 1982·Human Genetics·P Clark, N G Martin
Jun 1, 1985·Clinical Immunology and Immunopathology·S N BreitR Penny
Dec 1, 1988·Baillière's Clinical Rheumatology·D M Grennan, P A Sanders

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