Linked Life Data

10940080

Source:http://linkedlifedata.com/resource/pubmed/id/10940080

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2000-9-14
pubmed:abstractText
Gene variations of HFE, a HLA-class I like molecule, are highly associated with hereditary haemochromatosis (HH). Functional as well as molecular studies of the HFE protein have indicated that the molecule is involved in iron metabolism and that the HFE gene variations observed among HH patients affect its interaction with the transferrin receptor (TfR). In the present study, we have therefore analysed the relationship between the HFE gene variants, C282Y and H63D, and body iron status among 85 German HH patients. In addition, two TfR gene polymorphism, TfR-Hin6I and TfR-BanI, were typed that have been reported to define ethnically distinct haplotypes. As controls we used 251/159 healthy German blood donors. Seventy-eight (92%) patients were C292Y homozygous, the H63D mutation was present in five (6%) patients with none of the patients being H63D homozygous. Serum transferrin, transferrin saturation and liver iron content were determined prior to therapeutic intervention. Among C282Y homozygous patients serum ferritin levels (2294 +/- 3174 vs. 463 +/- 224 microg L-1, P < 0.0001) and transferrin saturation (86 +/- 18% vs. 62 +/- 25%, P = 0.048) were elevated significantly compared with C282Y and/or H63D heterozygous patients. In addition, the liver iron content (291 +/- 165 vs. 138 +/- 95 micromol g-1, P = 0.028) and liver iron index (6.4 +/- 2.8 vs. 3.2 +/- 2.3, P = 0.019) were increased among C282Y homozygotes compared with C282Y heterozygotes. In contrast, no difference was observed between patients and controls regarding the distribution of TfR-Hin6I and TfR-BanI alleles. These data indicate that the iron intake is higher among C282Y homozygous patients compared with C282Y heterozygous or C282Y/H63D compound heterozygous individuals and supports the functional role of the HFE protein in iron metabolism whereas the TfR gene variants seem to have no influence on iron uptake.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0960-7420
pubmed:author
pubmed:issnType
Print
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
129-34
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:10940080-Blood Donors, pubmed-meshheading:10940080-Deoxyribonucleases, Type II Site-Specific, pubmed-meshheading:10940080-Female, pubmed-meshheading:10940080-Ferritins, pubmed-meshheading:10940080-Genetic Testing, pubmed-meshheading:10940080-Genotype, pubmed-meshheading:10940080-Germany, pubmed-meshheading:10940080-HLA Antigens, pubmed-meshheading:10940080-Hemochromatosis, pubmed-meshheading:10940080-Histocompatibility Antigens Class I, pubmed-meshheading:10940080-Homozygote, pubmed-meshheading:10940080-Humans, pubmed-meshheading:10940080-Iron, pubmed-meshheading:10940080-Iron Overload, pubmed-meshheading:10940080-Liver, pubmed-meshheading:10940080-Male, pubmed-meshheading:10940080-Membrane Proteins, pubmed-meshheading:10940080-Middle Aged, pubmed-meshheading:10940080-Point Mutation, pubmed-meshheading:10940080-Polymorphism, Genetic, pubmed-meshheading:10940080-Polymorphism, Restriction Fragment Length, pubmed-meshheading:10940080-Receptors, Transferrin, pubmed-meshheading:10940080-Transferrin
pubmed:year
2000
pubmed:articleTitle
Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin6I and BanI polymorphism in german patients with hereditary haemochromatosis.
pubmed:affiliation
Department of Internal Medicine III, J-W Goethe University, Frankfurt/ Main, Germany.
pubmed:publicationType
Journal Article, Comparative Study