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Updated: Aug 18, 2026
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
Prevalence of HFE and TFR2 gene mutation in 118 Ligurian rheumatic patients
G Rovetta1, P Monteforte, L Buffrini
1Istituto E. Bruzzone, Centro Reumatologico, Università degli Studi di Genova-DISEM, ASL3, Genova. bruzzone@unige.it
Aim:
HFE gene is associated to haemochromatosis, an inherited autosomal recessive disorder responsible of an overload of iron in intestine, liver, pancreas, heart, cutis and joints. Articular and periarticular calcifications may occur. H63D mutation may play a role in the pathogenesis of rheumatoid arthritis.
Methods:
DNA of 118 consecutive patients (28 males, 90 females, mean age 58.5+/-13.44) living in Liguria and affected by different rheumatic diseases was examined to evaluate the presence of HFE mutations.
Results:
Analysis data showed that in 45% (53/118) of patients almost one mutation of HFE gene was present and the presence of H63D mutation in the rheumatic patients was particularly elevated. Data obtained in this study have permitted to reveal that 25 patients of 53 (47.1%) with 1 of 11 HFE mutations suffered from symptomatic or silent chondrocalcinosis.
Conclusions:
The conclusion is drawn that this mutation may be correlated to various rheumatic diseases.
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