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Gene carriers face other risks

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Carrying the aspartylglucosaminuria (AGU) mutation predisposes to chronic arthritis, researchers in Finland have found. There the mutation and the autosomal recessive disorder are more common. The carrier frequency of the AGUF in major gene is 1 in 50–85 (about 70 000 people), and 240 cases of AGU are known.

Chronic arthritis is a common feature of AGU. Looking for a potential link between the two, Arvio et al screened two groups of patients: 173 unrelated patients with rheumatoid factor (RF) positive arthritis and no relatives with AGU for the AGUF in major gene, and 131 carriers of AGU in whose child had AGU for RF.

Among patients with rheumatoid arthritis 3.5% (six) were AGUF in carriers compared with 1.6% for the Finnish population; relative risk of being a carrier 2.2 (95% confidence interval 0.9 to 5.0, p=0.054). Among parents of AGU patients 2.3% (three) had chronic arthritis: one a woman of 72 with RF positive arthritis for 50 years, two HLA B27 men with alkylosing spondylitis; 17 (13%) were RF positive, eight with joint symptoms for over three months, though chronic arthritis was unconfirmed clinically.

Carrier status for autosomal recessive disease may predispose to other conditions. Comparing the carrier rate of AGUF in in patients with chronic arthritis in their series with the estimate for the Finnish population (1:28 versus 1:50–85) and the prevalence of ankylosing spondylitis in parents of AGU patients (3.4% versus 0.15%), Arvio et al conclude that arthritis and AGU carrier state are at least weakly linked.

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