title: The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2.
abstract: We initiated the present work to determine whether the presence of the HFE C282Y or H63D mutations could be related to the clinical expression of diabetes mellitus type 2. Two hundred and twenty five type 2 consecutive diabetic patients were included and the HFE genotypes were determined. Younger ages of onset of diabetes as well as a longer duration of the disease were detected in patients carrying at least one C282Y allele (p = 0.007). An increased prevalence of retinopathy (p = 0.014) and of nephropathy (p = 0.04) were also detected in individuals carrying at least one C282Y allele in comparison with patients carrying the other alleles. The increased prevalence of retinopathy in C282Y carriers is related to the increased duration of the disease, but we not have detected that the prevalence of nephropathy is associated with the duration of the disease. However, multivariate logistic regression confirms that the prevalence of nephropathy is higher in the group of patients carrying at least one C282Y allele or the H63D/H63D genotype as compared to the group of patients with the wild-type (N/N) or the N/H63D genotype. To our knowledge our study is the first one to report an earlier age of onset in type 2 diabetic patients carrying HFE mutations.
authors.affiliation: Grup de Genètica Molecular, Hospital Clínic, Faculty of Medicine, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain. roliva@clinic.ub.es
authors.forename: Rafael
authors.initials: R
authors.lastname: Oliva
authors.forename: Anna
authors.initials: A
authors.lastname: Novials
authors.forename: Mayka
authors.initials: M
authors.lastname: Sánchez
authors.forename: Marga
authors.initials: M
authors.lastname: Villa
authors.forename: Mercedes
authors.initials: M
authors.lastname: Ingelmo
authors.forename: Mónica
authors.initials: M
authors.lastname: Recasens
authors.forename: Carlos
authors.initials: C
authors.lastname: Ascaso
authors.forename: Miquel
authors.initials: M
authors.lastname: Bruguera
authors.forename: Ramón
authors.initials: R
authors.lastname: Gomis
mesh_terms: D000367:Age Factors; D017668:Age of Onset; D000483:Alleles; D000704:Analysis of Variance; D004247:DNA / Q000097:blood; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D003928:Diabetic Nephropathies / Q000453:epidemiology / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000453:epidemiology / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D016015:Logistic Models; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013997:Time Factors
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D004247:DNA