HFE mutations in an inflammatory arthritis population

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Willis, G., Scott, D. G. I., Jennings, B. A. ORCID: https://orcid.org/0000-0003-3792-9182, Smith, K., Bukhari, M. and Wimperis, J. Z. (2002) HFE mutations in an inflammatory arthritis population. Rheumatology, 41 (2). pp. 176-179. ISSN 1462-0332

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Abstract

Objectives. To determine the value of screening patients with inflammatory arthritis for haemochromatosis-associated mutations in the HFE gene. Methods. We screened 1000 patients with inflammatory arthritis and 1000 controls for the HFE gene mutations that are associated with haemochromatosis. The arthritis patients were diagnosed between 1989 and 1995 and their blood DNA was archived as part of the Norfolk Arthritis Register project. Results. Five out of 1000 (0.005) patients in the arthritis group were homozygous for the HFE C282Y mutation. This frequency is the same as the frequency of 5/1000 (0.005) for C282Y homozygosity observed in the normal population. It is slightly above the predicted frequency of homozygosity of 0.0044 derived from the gene frequency in the normal population. Conclusions. These data suggest that most of the C282Y homozygotes occurred in this arthritis group by chance and that their arthritis was incidental to their HFE genotype. This implies that screening for HFE mutations among patients with inflammatory arthritis would infrequently identify patients whose arthritis might benefit from additional treatment.

Item Type: Article
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups: Faculty of Medicine and Health Sciences > Research Groups > Cancer Studies
Faculty of Medicine and Health Sciences > Research Centres > Population Health
Faculty of Medicine and Health Sciences > Research Centres > Lifespan Health
Depositing User: EPrints Services
Date Deposited: 25 Nov 2010 11:11
Last Modified: 04 Mar 2024 16:46
URI: https://ueaeprints.uea.ac.uk/id/eprint/13988
DOI: 10.1093/rheumatology/41.2.176

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