Genetic variation in hepcidin expression and its implications for phenotypic differences in iron metabolism

Haematologica

Volumn 94, Issue 9, 2009, Pages 1185-1188

  Bayele, Henry K ^a   Srai, Surjit Kaila S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN; CCAAT ENHANCER BINDING PROTEIN ALPHA; HEPCIDIN; JANUS KINASE; MAX PROTEIN; MYC PROTEIN; SMAD PROTEIN; STAT3 PROTEIN; UPSTREAM STIMULATORY FACTOR 1; UPSTREAM STIMULATORY FACTOR 2;

CIRCADIAN RHYTHM; DNA METHYLATION; EDITORIAL; EPIGENETICS; ERYTHROPOIESIS; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; IRON ABSORPTION; IRON METABOLISM; PHENOTYPIC VARIATION; PROTEIN EXPRESSION; REGULATORY MECHANISM; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; ANTIMICROBIAL CATIONIC PEPTIDES; GENE EXPRESSION REGULATION; GENETIC VARIATION; HUMANS; IRON;

EID: 70349083390     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.010793     Document Type: Editorial

References (24)

1. Chung B, Chaston T, Marks J, Srai SK, Sharp PA. Hepcidin decreases iron transporter expression in vivo in mouse duodenum and spleen and in vitro in THP-1 macrophages and intestinal Caco-2 cells. J Nutr. 2009 Jun 23. [Epub ahead of print] PubMed PMID: 19549758.
2. Lee PL, Beutler E. Regulation of hepcidin and iron-overload disease. Annu Rev Pathol 2009;4:489-515.
3. Roe MA, Collings R, Dainty JR, Swinkels DW, Fairweather-Tait SJ. Plasma hepcidin concentrations significantly predict interindividual variation in iron absorption in healthy men. Am J Clin Nutr 2009;89:1088-1091
4. Van Deuren M, Kroot JJC, Swinkels DW. Time-course analysis of serum hepcidin, iron and cytokines in a C282Y homozygous patient with Schnitzler's syndrome treated with IL-1 receptor antagonist. Haematologica 2009;94:1297-1300
5. Kroot JJ, Hendriks JC, Laarakkers CM, Klaver SM, Kemna EH, Tjalsma H, et al. (Pre)analytical imprecision, between-subject variability, and daily variations in serum and urine hepcidin: implications for clinical studies. Anal Biochem 2009;389:124-129
6. Stamatoyannopoulos JA. The genomics of gene expression. Genomics 2004;84:449-457
7. Robertson LS, Iwanowicz LR, Marranca JM. Identification of centrarchid hepcidins and evidence that 17beta-estradiol disrupts constitutive expression of hepcidin-1 and inducible expression of hepcidin-2 in largemouth bass (Micropterus salmoides). Fish Shellfish Immunol 2009;26:898-907.
8. Courselaud B, Troadec MB, Fruchon S, Ilyin G, Borot N, Leroyer P, et al. Strain and gender modulate hepatic hepcidin 1 and 2 mRNA expression in mice. Blood Cells Mol Dis 2004; 32:283-289 (Pubitemid 38296692)
9. Young MF, Glahn RP, Ariza-Nieto M, Inglis J, Olbina G, Westerman M, et al. Serum hepcidin is significantly associated with iron absorption from food and supplemental sources in healthy young women. Am J Clin Nutr 2009;89:533-538
10. Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet 2006;7:85-97.
11. Courselaud B, Pigeon C, Inoue Y, Inoue J, Gonzalez FJ, Leroyer P, et al. C/EBPalpha regulates hepatic transcription of hepcidin, an antimicrobial peptide and regulator of iron metabolism. Cross-talk between C/EBP pathway and iron metabolism. J Biol Chem 2002;277:41163-41170 (Pubitemid 35215708)
12. Bayele HK, McArdle H, Srai SKS. Cis and trans regulation of hepcidin expression by Upstream Stimulatory Factor. Blood 2006;108:4237-4245 (Pubitemid 44913299)
13. Reppert SM, Weaver DR. Molecular analysis of mammalian circadian rhythms. Annu Rev Physiol 2001;63:647-676 (Pubitemid 32304333)
14. Bayele HK, Srai SK. Regulatory variation in hepcidin expression as a heritable quantitative trait. Biochem Biophys Res Commun 2009;384:22-27
15. Wrighting DM, Andrews NC. 2006. Interleukin-6 induces hepcidin expression through STAT3. Blood 108:3204-3209
16. Island ML, Jouanolle AM, Mosser A, Deugnier Y, David V, Brissot P, et al. A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis. Haematologica 2009;94:720-724
17. Andreani M, Radio FR, Testi M, De Bernardo C, Troiano M, Majore S, et al. Association of hepcidin promoter C.- 582 α>γ variant and iron overload in thalassemia major. Haematologica 2009;94:1293-1296
18. Porto G, Roetto A, Daraio F, Pinto JP, Almeida S, Bacelar C, et al. A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron. Blood 2005;106: 2922-2923 (Pubitemid 41510776)
19. Calvo SE, Pagliarini DJ, Mootha VK. Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. Proc Natl Acad Sci USA 2009;106:7507-7512
20. Babitt JL, Huang FW, Wrighting DM, Xia Y, Sidis Y, Samad TA, et al. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet 2006;38:531-539
21. Huang YH, Huang CC, Chuang JH, Hsieh CS, Lee SY, Chen CL. Upstream stimulatory factor 2 is implicated in the progression of biliary atresia by regulation of hepcidin expression. J Pediatr Surg 2008;43:2016-2023
22. Melis MA, Cau M, Congiu R, Sole G, Barella S, Cao A, et al. A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. Haematologica 2008;93:1473-1479
23. Silvestri L, Pagani A, Nai A, De Domenico I, Kaplan J, Camaschella C. The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell Metab 2008;8:502-511
24. Choi JK, Kim Y-K. Epigenetic regulation and the variability of gene expression. Nat Genet 2008;40:141-147 (Pubitemid 351171392)