Tumor necrosis factor-alpha promoter variants and iron phenotypes in 785 Hemochromatosis and Iron Overload Screening (HEIRS) Study participants

Blood Cells, Molecules, and Diseases

Volumn 44, Issue 4, 2010, Pages 252-256

  Acton, Ronald T ^a   Barton, James C ^b,c   Leiendecker Foster, Catherine ^d   Zaun, Christopher ^d   McLaren, Christine E ^e   Eckfeldt, John H ^d  

^a University of Alabama at Birmingham   (United States)

^b SOUTHERN IRON DISORDERS CENTER   (United States)

^c University of Alabama at Birmingham   (United States)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Hemochromatosis; Iron; Iron overload; Phenotype; Tumor necrosis factor

Indexed keywords

FERRITIN; IRON; TRANSFERRIN; TUMOR NECROSIS FACTOR ALPHA;

ADULT; AGE DETERMINATION; ARTICLE; ASIAN; CAUCASIAN; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ETHNICITY; FERRITIN BLOOD LEVEL; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEMOCHROMATOSIS AND IRON OVERLOAD SCREENING STUDY; HETEROZYGOSITY; HISPANIC; HOMOZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NEGRO; PHENOTYPE; PREDICTION; PREVALENCE; PRIMARY MEDICAL CARE; PRIORITY JOURNAL; SEX DETERMINATION;

ADULT; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; ETHNIC GROUPS; FEMALE; FERRITINS; GENETIC TESTING; GENETIC VARIATION; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; PROMOTER REGIONS, GENETIC; TRANSFERRIN; TUMOR NECROSIS FACTOR-ALPHA;

EID: 77950300536     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.01.007     Document Type: Article

References (42)

1. Feder J.N., Gnirke A., Thomas W., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 1996, 13:399-408.
2. Gordeuk V.R., Ballou S., Lozanski G., Brittenham G.M. Decreased concentrations of tumor necrosis factor-alpha in supernatants of monocytes from homozygotes for hereditary hemochromatosis. Blood 1992, 79:1855-1860.
3. Conrad M.E., Umbreit J.N., Moore E.G., Parmley R.T. Hereditary hemochromatosis: a prevalent disorder of iron metabolism with an elusive etiology. Am. J. Hematol. 1994, 47:218-224.
4. Pociot F., Briant L., Jongeneel C.V., et al. Association of tumor necrosis factor (TNF) and class II major histocompatibility complex alleles with the secretion of TNF-alpha and TNF-beta by human mononuclear cells: a possible link to insulin-dependent diabetes mellitus. Eur. J. Immunol. 1993, 23:224-231.
5. Wilson A.G., Symons J.A., McDowell T.L., et al. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc. Natl. Acad. Sci. U. S. A. 1997, 94:3195-3199.
6. Kroeger K.M., Carville K.S., Abraham L.J. The -308 tumor necrosis factor-alpha promoter polymorphism effects transcription. Mol. Immunol. 1997, 34:391-399.
7. Barton J.C., Harmon L., Rivers C., Acton R.T. Hemochromatosis: association of severity of iron overload with genetic markers. Blood Cells Mol. Diseases 1996, 22:195-204.
8. Piperno A., Arosio C., Fargion S., et al. The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients. Hepatology 1996, 24:43-46.
9. Barton J.C., Shih W.W., Sawada-Hirai R., et al. Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. Blood Cells Mol. Diseases 1997, 23:135-145. discussion 145a-b.
10. Cruz E., Whittington C., Krikler S.H., et al. A new 500kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis. BMC Med. Genet. 2008, 9:97.
11. Fargion S., Valenti L., Dongiovanni P., et al. Tumor necrosis factor alpha promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis. Blood 2001, 97:3707-3712.
12. Beutler E., Gelbart T. Tumor necrosis factor alpha promoter polymorphisms and liver abnormalities of homozygotes for the 845G>A(C282Y) hereditary hemochromatosis mutation. Blood 2002, 100:2268-2269.
13. Distante S., Elmberg M., Foss K.B., et al. Tumour necrosis factor alpha and its promoter polymorphisms' role in the phenotypic expression of hemochromatosis. Scand. J. Gastroenterol. 2003, 38:871-877.
14. Krayenbuehl P.A., Maly F.E., Hersberger M., et al. Tumor necrosis factor-alpha -308G>A allelic variant modulates iron accumulation in patients with hereditary hemochromatosis. Clin. Chem. 2006, 52:1552-1558.
15. Le Gac G., Mura C., Ferec C. Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC. Clin. Chem. 2001, 47:1633-1640.
16. Biasiotto G., Belloli S., Ruggeri G., et al. Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. Clin. Chem. 2003, 49:1981-1988.
17. Cremonesi L., Foglieni B., Fermo I., et al. Identification of two novel mutations in the 5′-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning. Haematologica 2003, 88:1110-1116.
18. Cremonesi L., Stenirri S., Fermo I., et al. Denaturing HPLC analysis of DNA deletions and insertions. Hum. Mutat. 2003, 22:98-102.
19. Cremonesi L., Forni G.L., Soriani N., et al. Genetic and clinical heterogeneity of ferroportin disease. Br. J. Haematol. 2005, 131:663-670.
20. Barton J.C., Lafreniere S.A., Leiendecker-Foster C., et al. HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants. Am. J. Hematol. 2009, 84:710-714.
21. McLaren C.E., Barton J.C., Adams P.C., et al. Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100, 000 primary care-based adults. Am. J. Med. Sci. 2003, 325:53-62.
22. Adams P.C., Reboussin D.M., Barton J.C., et al. Hemochromatosis and iron-overload screening in a racially diverse population. N. Engl. J. Med. 2005, 352:1769-1778.
23. Wang X., Leiendecker-Foster C., Acton R.T., et al. Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants. Blood Cells Mol. Diseases 2009, 42:150-154.
24. Barton J.C., Leiendecker-Foster C., Li H., et al. HAMP promoter mutation nc.-153C>T in 785 HEIRS Study participants. Haematologica 2009, 94:1465.
25. Bland J.M., Altman D.G. Transformations, means, and confidence intervals. BMJ 1996, 312:1079.
26. Bland J.M., Altman D.G. The use of transformation when comparing two means. BMJ 1996, 312:1153.
27. D'Alfonso S., Richiardi P.M. A polymorphic variation in a putative regulation box of the TNFA promoter region. Immunogenetics 1994, 39:150-154.
28. Pociot F., D'Alfonso S., Compasso S., et al. Functional analysis of a new polymorphism in the human TNF alpha gene promoter. Scand. J. Immunol. 1995, 42:501-504.
29. Gonzalez S., Rodrigo L., Martinez-Borra J., et al. TNF-alpha -308A promoter polymorphism is associated with enhanced TNF-alpha production and inflammatory activity in Crohn's patients with fistulizing disease. Am. J. Gastroenterol. 2003, 98:1101-1106.
30. Sallakci N., Akcurin G., Koksoy S., et al. TNF-alpha G-308A polymorphism is associated with rheumatic fever and correlates with increased TNF-alpha production. J. Autoimmun. 2005, 25:150-154.
31. Johnson D., Bayele H., Johnston K., et al. Tumour necrosis factor alpha regulates iron transport and transporter expression in human intestinal epithelial cells. FEBS Lett. 2004, 573:195-201.
32. Laftah A.H., Sharma N., Brookes M.J., et al. Tumour necrosis factor alpha causes hypoferraemia and reduced intestinal iron absorption in mice. Biochem. J. 2006, 397:61-67.
33. Torti S.V., Kwak E.L., Miller S.C., et al. The molecular cloning and characterization of murine ferritin heavy chain, a tumor necrosis factor-inducible gene. J. Biol. Chem. 1988, 263:12638-12644.
34. Tsuji Y., Miller L.L., Miller S.C., Torti S.V., et al. Tumor necrosis factor-alpha and interleukin 1-alpha regulate transferrin receptor in human diploid fibroblasts. Relationship to the induction of ferritin heavy chain. J. Biol. Chem. 1991, 266:7257-7261.
35. Alvarez-Hernandez X., Liceaga J., McKay I.C., Brock J.H. Induction of hypoferremia and modulation of macrophage iron metabolism by tumor necrosis factor. Lab. Invest. 1989, 61:319-322.
36. Scaccabarozzi A., Arosio P., Weiss G., et al. Relationship between TNF-alpha and iron metabolism in differentiating human monocytic THP-1 cells. Br. J. Haematol. 2000, 110:978-984.
37. Sheikh N., Batusic D.S., Dudas J., et al. Hepcidin and hemojuvelin gene expression in rat liver damage: in vivo and in vitro studies. Am. J. Physiol.: Gastrointest. Liver Physiol. 2006, 291:G482-G490.
38. Harrison-Findik D.D., Klein E., Evans J., Gollan J. Regulation of liver hepcidin expression by alcohol in vivo does not involve Kupffer cell activation or TNF-alpha signaling. Am. J. Physiol.: Gastrointest. Liver Physiol. 2009, 296:G112-G118.
39. Tran T.N., Eubanks S.K., Schaffer K.J., et al. Secretion of ferritin by rat hepatoma cells and its regulation by inflammatory cytokines and iron. Blood 1997, 90:4979-4986.
40. Feelders R.A., Vreugdenhil G., Eggermont A.M., et al. Regulation of iron metabolism in the acute-phase response: interferon gamma and tumour necrosis factor alpha induce hypoferraemia, ferritin production and a decrease in circulating transferrin receptors in cancer patients. Eur. J. Clin. Invest. 1998, 28:520-527.
41. Nemeth E., Valore E.V., Territo M., et al. Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein. Blood 2003, 101:2461-2463.
42. Atkinson S.H., Rockett K.A., Morgan G., et al. Tumor necrosis factor SNP haplotypes are associated with iron deficiency anemia in West African children. Blood 2008, 112:4276-4283.