title: A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin.
abstract: We have examined transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin for mutations that might modulate the iron burden of individuals harboring the common mutant hemochromatosis HFE genotype C282Y/C282Y or cause hemochromatosis independent of mutations in the HFE gene. In a group of white, Asian, and African-American normal and iron-overloaded individuals, the coding and flanking regions of these genes were completely sequenced. Numerous coding region and promoter polymorphisms were detected. These were further examined for association with differences in iron accumulation as measured by plasma transferrin saturation and ferritin levels, but no such association could be documented.
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, California 92037, USA. plee@scripps.edu
authors.forename: P L
authors.initials: PL
authors.lastname: Lee
authors.forename: T
authors.initials: T
authors.lastname: Gelbart
authors.forename: C
authors.initials: C
authors.lastname: West
authors.forename: C
authors.initials: C
authors.lastname: Halloran
authors.forename: V
authors.initials: V
authors.lastname: Felitti
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D023181:Antimicrobial Cationic Peptides / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics; D002570:Ceruloplasmin / Q000235:genetics; D005192:Family Health; D005260:Female; D005293:Ferritins / Q000097:blood / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D064451:Hepcidins; D006801:Humans; D035925:Iron-Regulatory Proteins / Q000235:genetics; D008297:Male; D009154:Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics; D021122:Protein Subunits; D044469:Racial Groups; D016364:Reading Frames / Q000235:genetics; D011990:Receptors, Transferrin / Q000235:genetics; D017422:Sequence Analysis, DNA; D012737:Sex Factors; D014168:Transferrin / Q000032:analysis; D000098742:Ferroportin
chemical_list: D023181:Antimicrobial Cationic Peptides; D027682:Cation Transport Proteins; C578702:HAMP protein, human; D064451:Hepcidins; D035925:Iron-Regulatory Proteins; D021122:Protein Subunits; D011990:Receptors, Transferrin; D014168:Transferrin; D000098742:Ferroportin; D005293:Ferritins; D002570:Ceruloplasmin