DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis

Blood Cells, Molecules, and Diseases

Volumn 33, Issue 1, 2004, Pages 35-39

  Kelleher, Thomas ^a   Ryan, Eleanor ^a   Barrett, Sharon ^a   O'Keane, Conor ^a   Crowe, John ^a  

^a MATER MISERICORDIAE UNIVERSITY HOSPITAL   (Ireland)

Author keywords

Divalent metal iron transporter (DMT1); Genetic modifier; Haplotype; Hereditary hemochromatosis; Penetrance

Indexed keywords

IRON; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HAPLOTYPE; HEMOCHROMATOSIS; HOMOZYGOTE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STAINING; STATISTICAL SIGNIFICANCE;

ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; CATION TRANSPORT PROTEINS; FEMALE; GENE FREQUENCY; HAPLOTYPES; HEMOCHROMATOSIS; HUMANS; IRON; IRON OVERLOAD; IRON-BINDING PROTEINS; LIVER; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 3042651699     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2004.04.005     Document Type: Article

References (27)

1. Feder J.N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D.A., Basava A., Dormishian F., Domingo R. Jr., Ellis M.C., Fullan A., Hinton L.M., Jones N.L., Kimmel B.E., Kronmal G.S., Lauer P., Lee V.K., Loeb D.B., Mapa F.A., McClelland E., Meyer N.C., Mintier G.A., Moeller N., Moore T., Morikang E., Wolff R.K., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13:1996;399-408
2. Beutler E., Gelbart T., West C., Lee P., Adams M., Blackstone R., Pockros P., Kosty M., Venditti C.P., Phatak P.D., Seese N.K., Chorney K.A., Ten Elshof A.E., Gerhard G.S., Chorney M. Mutation analysis in hereditary hemochromatosis. Blood Cells, Mol. Dis. 22:1996;187-194. (discussion 194a-194b)
3. Jazwinska E.C., Cullen L.M., Busfield F., Pyper W.R., Webb S.I., Powell L.W., Morris C.P., Walsh T.P. Haemochromatosis and HLA-H. Nat. Genet. 14:1996;249-251
4. Jouanolle A.M., Gandon G., Jezequel P., Blayau M., Campion M.L., Yaouanq J., Mosser J., Fergelot P., Chauvel B., Bouric P., Carn G., Andrieux N., Gicquel I., Le Gall J.Y., Davidm V. Haemochromatosis and HLA-H. Nat. Genet. 14:1996;251-252
5. Ryan F., Vaughan J. Haemochromatosis mutation analysis in a normal Irish population. Br. J. Biomed. Sci. 57:2000;315-316
6. Fairbanks V.F., Brandhagen D.J., Thibodeau S.N., Snow K., Wollan P.C. H63D is an haemochromatosis associated allele. Gut. 43:1998;441-442
7. Adams P., Brissot P., Powell L.W. EASL international consensus conference on haemochromatosis. J. Hepatol. 33:2000;485-504
8. Asberg A., Hveem K., Thorstensen K., Ellekjter E., Kannelonning K., Fjosne U., Halvorsen T.B., Smethurst H.B., Sagen E., Bjerve K.S. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65, 238 persons. Scand. J. Gastroenterol. 36:2001;1108-1115
9. Beutler E., Felitti V.J., Koziol J.A., Ho N.J., Gelbart T. Penetrance of 845G - > A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. 359:2002;211-218
10. Anderson G.J., Powell L.W. Of metals, mice, and men: what animal models can teach us about body iron loading? J. Clin. Invest. 105:2000;1185-1186
11. Bomford A. Genetics of haemochromatosis. Lancet. 360:2002;1673-1681
12. Lee P.L., Gelbart T., West C., Halloran C., Beutler E. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. Blood Cells, Mol. Dis. 24:1998;199-215
13. Lee P.L., Gelbart T., West C., Halloran C., Felitti V., Beutler E. 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. Blood Cells, Mol. Dis. 27:2001;783-802
14. Lee P., Gelbart T., West C., Halloran C., Beutler E. Seeking candidate mutations that affect iron homeostasis. Blood Cells, Mol. Dis. 29:2002;471-487
15. Ioannou G.N., Kowdley K.V. Hepcidin in HFE-associated hemochromatosis: another piece of the "iron" puzzle. Gastroenterology. 126:2004;615-616
16. Merryweather-Clarke A.T., Cadet E., Bomford A., Capron D., Viprakasit V., Miller A., McHugh P.J., Chapman R.W., Pointon J.J., Wimhurst V.L., Livesey K.J., Tanphaichitr V., Rochette J., Robson K.J. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum. Mol. Genet. 12:2003;2241-2247
17. Gunshin H., Mackenzie B., Berger U.V., Gunshin Y., Romero M.F., Boron W.F., Nussberger S., Gollan J.L., Hediger M.A. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature. 388:1997;482-488
18. Fleming M.D., Trenor C.C. III, Su M.A., Foernzler D., Beier D.R., Dietrich W.F., Andrews N.C. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat. Genet. 16:1997;383-386
19. Ryan E., O'Keane C., Crowe J. Hemochromatosis in Ireland and HFE. Blood Cells, Mol. Dis. 24:1998;428-432
20. Jeffrey G.P., Chakrabarti S., Hegele R.A., Adams P.C. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nat. Genet. 22:1999;325-326
21. Scheuer P.J., Muir A.R. Hepatic pathology in relatives of patients with hemochromatosis. J. Pathol. Bacteriol. 84:1962;53-64
22. Stokkers P.C., Huibregtse K. Jr., Leegwater A.C., Reitsma P.H., Tytgat G.N., van Deventer S.J. Analysis of a positional candidate gene for inflammatory bowel disease: NRAMP2. Inflamm. Bowel Dis. 6:2000;92-98
23. University of Geneva, Switzerland, A software for population genetic data analysis. In Arlequin Version 2.00 (2000).
24. Fleming M.D., Romano M.A., Su M.A., Garrick L.M., Garrick M.D., Andrews N.C. Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. Proc. Natl. Acad. Sci. U. S. A. 95:1998;1148-1153
25. Fleming R.E., Migas M.C., Zhou X., Jiang J., Britton R.S., Brunt E.M., Tomatsu S., Waheed A., Bacon B.R., Sly W.S. Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. Proc. Natl. Acad. Sci. U. S. A. 96:1999;3143-3148
26. Zoller H., Koch R.O., Theurl I., Obrist P., Pietrangelo A., Montosi G., Haile D.J., Vogel W., Weiss G. Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload. Gastroenterology. 120:2001;1412-1419
27. Rolfs A., Bonkovsky H.L., Kohlroser J.G., McNeal K., Sharma A., Berger U.V., Hediger M.A. Intestinal expression of genes involved in iron absorption in humans. Am. J. Physiol.: Gastrointest. Liver Physiol. 282:2002;G598-G607