Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis.
OBJECTIVE
To determine if there is an association between radiographic osteoarthritis (OA) of the hand and the presence of hemochromatosis HFE gene mutations.


METHODS
One hundred seventy-six patients with radiographic OA of the hand were randomly selected from an academic rheumatology practice. We measured serum transferrin saturation (TS) and ferritin levels, and genotyped for the presence of the 2 common HFE mutations, C282Y and H63D. The prevalences of HFE mutations in these patients were compared to those in a hemochromatosis screening study from the same primary care patient base.


RESULTS
There was a significantly increased prevalence of the C282Y mutation in the OA population compared to the unselected controls (12.5 vs 7.8%; p = 0.029). The prevalence of C282Y in OA was higher among older patients: 15.75% in the group older than 65 years versus 4.08% in the younger group. The mean TS level was higher among OA patients who were heterozygous for C282Y compared to those who lacked both HFE mutations (35.75 vs 25.93%; p < 0.0001). This difference was also found in the general population.


CONCLUSIONS
This is the first report to show an increased risk of OA among individuals who are heterozygous for the C282Y HFE mutation. The increase in this mutation in patients older than 65 suggests that this is associated with a late onset subset of OA. If this association is substantiated by larger randomized controlled studies, it could have major therapeutic implications in the development of specific therapy directed at individuals heterozygous for C282Y HFE mutation.
Ross
James M
JM
Department of Medicine at the University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
Kowalchuk
Roman M
RM
Shaulinsky
Jennifer
J
Ross
Lori
L
Ryan
Daniel
D
Phatak
Pradyumna D
PD
D000368:Aged; D002805:Chondrocalcinosis / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005838:Genotype; D006225:Hand; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010003:Osteoarthritis / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation; D015995:Prevalence; D012307:Risk Factors
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins