HFE gene mutations are associated with osteoarthritis in the index or middle finger metacarpophalangeal joints.
OBJECTIVE
. To test the hypothesis that possession of either C282Y or H63D mutations in the HFE gene is associated with primary osteoarthritis (OA) in joints commonly affected in hemochromatotic arthropathy.


METHODS
HFE genotyping was performed in 87 patients with radiologically proven OA in 3 joint regions: index or middle finger metacarpophalangeal joints (MCP2,3; n = 52), elbow joints (n = 8), ankle, intertarsal or tarsometatarsal joints (ankle/IT/TMT; n = 27); and in 56 patients with radiologically proven OA in finger interphalangeal (IP) joints, but not MCP2,3 joints (IP OA control group). HFE mutation frequencies in these groups were also compared to those in a similar population (Busselton population control group).


RESULTS
A statistically significant association between HFE mutations and OA was observed for the MCP2,3 joints (p = 0.0001) and the ankle/IT/TMT joint group (p = 0.002) as well as for the 3 joint regions collectively (p = 0.0001), but not for the elbow joints (p = 0.062). Comparison with the Busselton population controls showed similar statistically significant associations, except for the elbow and ankle/IT/TMT groups, where similar trends were observed.


CONCLUSIONS
HFE gene mutations are associated with OA in the MCP2,3 joints. These mutations may be markers for a polyarticular OA phenotype.
University Department of Medicine, University of Western Australia. md@arthrocare.com.au
Graeme J
GJ
Carroll
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005384:Finger Joint / Q000000981:diagnostic imaging*; D020022:Genetic Predisposition to Disease; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008662:Metacarpophalangeal Joint / Q000000981:diagnostic imaging*; D008875:Middle Aged; D010003:Osteoarthritis / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics*; D017354:Point Mutation; D011859:Radiography
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron