Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis.
OBJECTIVE
To ascertain whether being a carrier of an autosomal recessive disease, aspartylglucosaminuria (AGU), predisposes to chronic arthritis, as does AGU disease.


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%.


CONCLUSIONS
As for AGU disease, carrier status may also predispose to chronic arthritis.
Arvio
M
M
The Pääjärvi Centre, Lammi, Department of Pediatric Neurology, Tampere University Hospital, Finland. arvio@mail.htk.fi
Laiho
K
K
Kauppi
M
M
Peippo
M
M
Leino
P
P
Kautiainen
H
H
Kaipiainen-Seppänen
O
O
Mononen
I
I
D000328:Adult; D000368:Aged; D001172:Arthritis, Rheumatoid / Q000235:genetics* / Q000276:immunology; D001227:Aspartylglucosylaminase / Q000235:genetics*; D002908:Chronic Disease; D005260:Female; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D009154:Mutation; D012217:Rheumatoid Factor / Q000032:analysis
D012217:Rheumatoid Factor; D001227:Aspartylglucosylaminase