Effect of C282Y genotype on self-reported musculoskeletal complications in hereditary hemochromatosis
| Autor: | Sébastien Ottaviani, Thomas Funck-Brentano, António Camacho, Márcio Simão, Martine Cohen-Solal, M. Leonor Cancela, Pascal Richette |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Male
Histocompatibility Antigens Class I/genetics Osteoporosis lcsh:Medicine Hfe Gene Osteoporosis/genetics Compound heterozygosity Gastroenterology Loss of heterozygosity 0302 clinical medicine Genotype Musculoskeletal Diseases lcsh:Science 2. Zero hunger 0303 health sciences Multidisciplinary Osteoarthritis/genetics Homozygote Transferrin Middle Aged 3. Good health Hemochromatosis/complications Musculoskeletal Diseases/genetics Hereditary hemochromatosis Female Hemochromatosis Mutations Research Article medicine.medical_specialty Heterozygote CHLC ORT Arthropathy Biology Increased Risk 03 medical and health sciences Transferrin/genetics Iron-Overload Internal medicine Osteoarthritis medicine Humans Membrane Proteins/genetics Hemochromatosis Protein Genetic Hemochromatosis Bone Aged 030304 developmental biology 030203 arthritis & rheumatology Joint Replacement Surgery Histocompatibility Antigens Class I lcsh:R Membrane Proteins medicine.disease Hemochromatosis/genetics Ferritins/genetics Ferritins Immunology lcsh:Q Self Report Ferritin Concentrations Complication Musculoskeletal Diseases/etiology |
| Zdroj: | Repositório Científico de Acesso Aberto de Portugal Repositório Científico de Acesso Aberto de Portugal (RCAAP) instacron:RCAAP Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação PLoS ONE, Vol 10, Iss 3, p e0122817 (2015) PLoS ONE |
| Popis: | Objective Arthropathy that mimics osteoarthritis (OA) and osteoporosis (OP) is considered a complication of hereditary hemochromatosis (HH). We have limited data comparing OA and OP prevalence among HH patients with different hemochromatosis type 1 (HFE) genotypes. We investigated the prevalence of OA and OP in patients with HH by C282Y homozygosity and compound heterozygosity (C282Y/H63D) genotype. Methods A total of 306 patients with HH completed a questionnaire. Clinical and demographic characteristics and presence of OA, OP and related complications were compared by genotype, adjusting for age, sex, body mass index (BMI), current smoking and menopausal status. Results In total, 266 of the 306 patients (87%) were homozygous for C282Y, and 40 (13%) were compound heterozygous. The 2 groups did not differ by median age [60 (interquartile range [IQR] 53 to 68) vs. 61 (55 to 67) years, P=0.8], sex (female: 48.8% vs. 37.5%, P=0.18) or current smoking habits (12.4% vs. 10%, P=0.3). As compared with compound heterozygous patients, C282Y homozygous patients had higher median serum ferritin concentration at diagnosis [1090 (IQR 610 to 2210) vs. 603 (362 to 950) mu g/L, P |
| Databáze: | OpenAIRE |
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