title: Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans.
abstract: We find that in the Black American population average ferritin levels are higher than those in Whites, both among men and women. African-Americans have an increased prevalence of iron storage disease characterized by prominent iron deposition in macrophages of the liver and other organs. The iron distribution in patients with mutations of the ferroportin gene is similar. A c.744 G-->T (Gln 248 His) mutation was detected among African-Americans at polymorphic frequencies. This variant is associated with increased ferritin levels in African-Americans and may play a role in their propensity to develop iron overload.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA. beutler@scripps.edu
authors.forename: Ernest
authors.initials: E
authors.lastname: Beutler
authors.forename: James C
authors.initials: JC
authors.lastname: Barton
authors.forename: Vincent J
authors.initials: VJ
authors.lastname: Felitti
authors.forename: Terri
authors.initials: T
authors.lastname: Gelbart
authors.forename: Carol
authors.initials: C
authors.lastname: West
authors.forename: Pauline L
authors.initials: PL
authors.lastname: Lee
authors.forename: Jill
authors.initials: J
authors.lastname: Waalen
authors.forename: Chris
authors.initials: C
authors.lastname: Vulpe
mesh_terms: D000349:Africa / Q000208:ethnology; D001741:Black or African American / Q000235:genetics*; D000375:Aging / Q000097:blood; D027682:Cation Transport Proteins / Q000235:genetics*; D005260:Female; D005293:Ferritins / Q000097:blood; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D019190:Iron Overload / Q000097:blood / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D012727:Sex Characteristics; D044465:White People; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D000098742:Ferroportin; D005293:Ferritins