Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans

被引：95

作者：

Beutler, E

Barton, JC

Felitti, VJ

Gelbart, T

West, C

Lee, PL

Waalen, J

Vulpe, C

机构：

[1] Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA 92037 USA

[2] So Iron Disorders Ctr, Birmingham 35209, W Midlands, England

[3] Kaiser Permanente, Dept Prevent Med, San Diego, CA 92111 USA

[4] Univ Calif Berkeley, Dept Nutr Sci & Toxicol, Berkeley, CA 94720 USA

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2003年 / 31卷 / 03期

关键词：

D O I：

10.1016/S1079-9796(03)00165-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2003 Elsevier Inc. All rights reserved.

引用

页码：305 / 309

页数：5

共 50 条

[1] Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene
Gordeuk, VR
Caleffi, A
Corradini, E
Ferrara, F
Jones, RA
Castro, O
Onyekwere, O
Kittles, R
Pignatti, E
Montosi, G
Garuti, C
Gangaidzo, IT
Gomo, ZAR
Moyo, VM
Rouault, TA
MacPhail, P
Pietrangelo, A
BLOOD CELLS MOLECULES AND DISEASES, 2003, 31 (03) : 299 - 304
[2] Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene (vol 31, pg 299, 2003)
Gordeuk, VR
Caleffi, A
Corradini, E
Ferrara, F
Jones, RA
Castro, O
Onyekwere, O
Kittles, R
Pignatti, E
Montosi, G
Garuti, C
Gangaidzo, IT
Gomo, ZAR
Moyo, VM
Rouault, TA
MacPhail, P
Pietrangelo, A
BLOOD CELLS MOLECULES AND DISEASES, 2004, 33 (01) : 94 - 94
[3] IRON OVERLOAD IN AFRICAN-AMERICANS
BARTON, JC
EDWARDS, CQ
BERTOLI, LF
SHROYER, TW
HUDSON, SL
AMERICAN JOURNAL OF MEDICINE, 1995, 99 (06): : 616 - 623
[4] SPONTANEOUS IRON OVERLOAD IN AFRICAN-AMERICANS
BARTON, JC
EDWARDS, CO
BERTOLI, LF
BLOOD, 1993, 82 (10) : A95 - A95
[5] Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene
Raszeja-Wyszomirska, Joanna
Caleffi, Angela
Milkiewicz, Piotr
Pietrangelo, Antonello
PRZEGLAD GASTROENTEROLOGICZNY, 2014, 9 (05): : 307 - 309
[6] Hepatic iron overload in African-Americans and Caucasians: A comparison.
Khan, CM
Brunt, EM
O'Neill, R
Brown, KE
HEPATOLOGY, 1998, 28 (04) : 423A - 423A
[7] Identification of Mutations in SLC40A1 That Affect Ferroportin Function and Phenotype of Human Ferroportin Iron Overload
Mayr, Roman
Griffiths, William J. H.
Hermann, Martin
McFarlane, Ian
Halsall, David J.
Finkenstedt, Armin
Douds, Andrew
Davies, Susan E.
Janecke, Andreas R.
Vogel, Wolfgang
Cox, Timothy M.
Zoller, Heinz
GASTROENTEROLOGY, 2011, 140 (07) : 2056 - U288
[8] Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
Jouanolle, AM
Douabin-Gicquel, V
Halimi, C
Loréal, O
Fergelot, P
Delacour, T
de Lajarte-Thirouard, AS
Turlin, B
Le Gall, JY
Cadet, E
Rochette, J
David, V
Brissot, P
JOURNAL OF HEPATOLOGY, 2003, 39 (02) : 286 - 289
[9] Impaired Iron Transport Activity of Ferroportin 1 in Hereditary Iron Overload
J.A. McGregor
M. Shayeghi
C.D. Vulpe
G.J. Anderson
A. Pietrangelo
R.J. Simpson
A.T. Mckie
The Journal of Membrane Biology, 2005, 206 : 3 - 7
[10] Impaired iron transport activity of ferroportin 1 in hereditary iron overload
McGregor, JA
Shayeghi, M
Vulpe, CD
Anderson, GJ
Pietrangelo, A
Simpson, RJ
Mckie, AT
JOURNAL OF MEMBRANE BIOLOGY, 2005, 206 (01): : 3 - 7

← 1 2 3 4 5 →