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Annals of the Rheumatic Diseases logoLink to Annals of the Rheumatic Diseases
. 2002 Feb;61(2):180–181. doi: 10.1136/ard.61.2.180

Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis

M Arvio 1, K Laiho 1, M Kauppi 1, M Peippo 1, P Leino 1, H Kautiainen 1, O Kaipiainen-Seppan 1, I Mononen 1
PMCID: PMC1753996  PMID: 11796409

Abstract

Methods: A group of 173 unrelated patients with rheumatoid arthritis (RA) but with no family members with AGU each gave a blood sample for AGUFin major mutation DNA analysis. A group of 131 AGU carriers who were parents of patients with AGU completed a questionnaire on joint symptoms and gave a blood sample for rheumatoid factor (RF) analysis. Eight RF positive parents with prolonged joint symptoms had a rheumatological evaluation.

Results: Six patients (1/28) with RA were carriers of the AGUFin major mutation, whereas the carrier frequency among Finns in general is 1/50 to 1/85. Three AGU carriers had chronic arthritis (2.3%), and 17 (13%) were RF positive; the respective percentages among Finns in general are 1.4% and 5%.

Conclusion: As for AGU disease, carrier status may also predispose to chronic arthritis.

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Figure 1 .

Figure 1

Prevalence, with 95% confidence intervals, of the AGUFin major mutation among Finns. Samples 1–5 (samples 4 and 5 are from the same study) are from earlier studies.4–7 RA, Patients with rheumatoid arthritis.


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